Details for: HEXA

Gene ID: 3073

Symbol: HEXA

Ensembl ID: ENSG00000213614

Description: hexosaminidase subunit alpha

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 253.4311
    Cell Significance Index: -39.4200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 121.0952
    Cell Significance Index: -30.7200
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 99.2602
    Cell Significance Index: -40.8900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 87.9861
    Cell Significance Index: -35.7500
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 84.9356
    Cell Significance Index: -40.1000
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 75.3715
    Cell Significance Index: -38.7700
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 37.6934
    Cell Significance Index: -35.9900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 32.6614
    Cell Significance Index: -40.2700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 12.0294
    Cell Significance Index: -32.2300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 11.9227
    Cell Significance Index: -36.6200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 10.3205
    Cell Significance Index: -40.7300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.4803
    Cell Significance Index: 240.7600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.3109
    Cell Significance Index: 262.9600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.9943
    Cell Significance Index: 356.6300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.9930
    Cell Significance Index: 136.3600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.7977
    Cell Significance Index: 21.3800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7783
    Cell Significance Index: 20.8200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7535
    Cell Significance Index: 135.8400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.7075
    Cell Significance Index: 386.3900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.6895
    Cell Significance Index: 32.1500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.6811
    Cell Significance Index: 195.9900
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.6614
    Cell Significance Index: 15.2800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.5996
    Cell Significance Index: 76.8600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.5427
    Cell Significance Index: 66.7300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5195
    Cell Significance Index: 35.9300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4736
    Cell Significance Index: 10.2600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4329
    Cell Significance Index: 22.4900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.4204
    Cell Significance Index: 12.0500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.4160
    Cell Significance Index: 21.8400
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.4139
    Cell Significance Index: 7.6500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.4087
    Cell Significance Index: 52.8100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.3934
    Cell Significance Index: 20.4900
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.3740
    Cell Significance Index: 18.9000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.3675
    Cell Significance Index: 23.7100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.3232
    Cell Significance Index: 15.1900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.2922
    Cell Significance Index: 21.7800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2672
    Cell Significance Index: 118.1500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2464
    Cell Significance Index: 7.1000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.2444
    Cell Significance Index: 6.1100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1991
    Cell Significance Index: 15.2800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1628
    Cell Significance Index: 4.4300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1555
    Cell Significance Index: 15.3800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1322
    Cell Significance Index: 7.4200
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.1238
    Cell Significance Index: 1.3200
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.1117
    Cell Significance Index: 3.2800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0971
    Cell Significance Index: 4.4000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.0793
    Cell Significance Index: 0.7300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0766
    Cell Significance Index: 14.5800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0337
    Cell Significance Index: 3.4400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0329
    Cell Significance Index: 1.4600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0146
    Cell Significance Index: 0.3900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0132
    Cell Significance Index: 9.6500
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.0130
    Cell Significance Index: 0.2300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0014
    Cell Significance Index: 0.2400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0011
    Cell Significance Index: 0.8200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0085
    Cell Significance Index: -0.3000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0165
    Cell Significance Index: -31.0100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0187
    Cell Significance Index: -0.7100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0217
    Cell Significance Index: -40.0200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0275
    Cell Significance Index: -42.3300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0330
    Cell Significance Index: -44.9200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0349
    Cell Significance Index: -25.8600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0531
    Cell Significance Index: -33.7400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0625
    Cell Significance Index: -35.2300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0716
    Cell Significance Index: -8.4400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0721
    Cell Significance Index: -45.0400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0747
    Cell Significance Index: -0.8900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0757
    Cell Significance Index: -1.9900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0771
    Cell Significance Index: -4.8600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0825
    Cell Significance Index: -37.4400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0850
    Cell Significance Index: -1.8100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0918
    Cell Significance Index: -6.4900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1117
    Cell Significance Index: -1.8700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1418
    Cell Significance Index: -16.5300
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.1668
    Cell Significance Index: -2.5000
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1678
    Cell Significance Index: -5.8300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.1694
    Cell Significance Index: -18.4300
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1730
    Cell Significance Index: -4.4200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1819
    Cell Significance Index: -36.1000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1886
    Cell Significance Index: -21.6100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1924
    Cell Significance Index: -40.5300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2506
    Cell Significance Index: -36.4300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.3020
    Cell Significance Index: -4.1200
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.3275
    Cell Significance Index: -3.7200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3916
    Cell Significance Index: -40.7800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4112
    Cell Significance Index: -13.1700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4244
    Cell Significance Index: -33.6100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.4675
    Cell Significance Index: -9.7900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.5994
    Cell Significance Index: -6.2100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.6182
    Cell Significance Index: -38.0000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.6264
    Cell Significance Index: -42.1200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6430
    Cell Significance Index: -39.4200
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.6713
    Cell Significance Index: -5.3600
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.6999
    Cell Significance Index: -14.9600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.7404
    Cell Significance Index: -14.4500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.7724
    Cell Significance Index: -24.6000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.7947
    Cell Significance Index: -27.8400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.8060
    Cell Significance Index: -26.3900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.8366
    Cell Significance Index: -24.6400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.8558
    Cell Significance Index: -10.6200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** HEXA is a transmembrane protein composed of two subunits, alpha and beta, which are encoded by the HEXA and HEXB genes, respectively. The alpha subunit is responsible for the enzymatic activity of Hex-A, while the beta subunit provides stability to the enzyme. HEXA is primarily expressed in the lysosomes of neurons, where it is involved in the degradation of gangliosides and other lipids. **Pathways and Functions** HEXA is involved in several cellular processes, including: 1. **Glycosphingolipid degradation**: HEXA breaks down gangliosides, a type of glycosphingolipid, into smaller components, which helps maintain cellular homeostasis and prevent the accumulation of toxic substances. 2. **Lysosomal function**: HEXA is a crucial component of the lysosome, a membrane-bound organelle responsible for cellular digestion and recycling. 3. **Cellular differentiation**: HEXA is involved in the differentiation of neurons, particularly during embryonic development. 4. **Myelination**: HEXA plays a role in the myelination process, which involves the formation of a fatty insulating layer around nerve fibers. **Clinical Significance** Mutations in the HEXA gene can lead to Tay-Sachs disease, a genetic disorder characterized by: 1. **Progressive neurological deterioration**: Patients with Tay-Sachs disease experience progressive neurological deterioration, including seizures, muscle weakness, and paralysis. 2. **Intellectual disability**: Tay-Sachs disease often leads to intellectual disability and developmental delays. 3. **Early death**: Tay-Sachs disease is typically fatal, with most patients dying within the first two years of life. Other diseases associated with HEXA mutations include Sandhoff disease, a rare genetic disorder characterized by progressive neurological deterioration and intellectual disability. In conclusion, HEXA is a critical component of the enzyme hexosaminidase A, which plays a vital role in the degradation of gangliosides and maintenance of cellular homeostasis. Mutations in the HEXA gene can lead to Tay-Sachs disease and other related disorders, highlighting the importance of this gene in human health and disease.

Genular Protein ID: 3653099386

Symbol: HEXA_HUMAN

Name: Beta-N-acetylhexosaminidase subunit alpha

UniProtKB Accession Codes:

P06865 B4DKE7 E7ENH7 Q53HS8 Q6AI32

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChEBI 20 ChEMBL 1 ChiTaRS 1 ComplexPortal 2 DMDM 1 DNASU 1 DisGeNET 1 DrugCentral 1 EC 1 EMBL 35 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 29 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIR 1 PIRSF 1 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 5 RefSeq 2 Rhea 10 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissLipids 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2933746

Title: Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain.

PubMed ID: 2933746

DOI: 10.1073/pnas.82.23.7830

PubMed ID: 2952641

Title: Organization of the gene encoding the human beta-hexosaminidase alpha-chain.

PubMed ID: 2952641

DOI: 10.1016/s0021-9258(18)45628-1

PubMed ID: 1833974

Title: Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease.

PubMed ID: 1833974

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11707436

Title: Physiological substrates for human lysosomal beta -hexosaminidase S.

PubMed ID: 11707436

DOI: 10.1074/jbc.m105457200

PubMed ID: 3013851

Title: Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease.

PubMed ID: 3013851

DOI: 10.1016/s0021-9258(19)83927-3

PubMed ID: 2965147

Title: Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunits.

PubMed ID: 2965147

DOI: 10.1016/s0021-9258(18)68826-x

PubMed ID: 2971395

Title: Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human beta-hexosaminidase.

PubMed ID: 2971395

DOI: 10.1021/bi00414a041

PubMed ID: 1533633

Title: Analysis of the glycosylation and phosphorylation of the alpha-subunit of the lysosomal enzyme, beta-hexosaminidase A, by site-directed mutagenesis.

PubMed ID: 1533633

DOI: 10.1016/s0021-9258(19)50196-x

PubMed ID: 8123671

Title: Classification of disorders of GM2 ganglioside hydrolysis using 3H-GM2 as substrate.

PubMed ID: 8123671

DOI: 10.1016/0304-4165(94)90118-x

PubMed ID: 8672428

Title: Direct determination of the substrate specificity of the alpha-active site in heterodimeric beta-hexosaminidase A.

PubMed ID: 8672428

DOI: 10.1021/bi9524575

PubMed ID: 8652542

Title: Identification of an active acidic residue in the catalytic site of beta-hexosaminidase.

PubMed ID: 8652542

DOI: 10.1021/bi960246+

PubMed ID: 9694901

Title: A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.

PubMed ID: 9694901

DOI: 10.1074/jbc.273.33.21386

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 8673609

Title: Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease.

PubMed ID: 8673609

DOI: 10.1038/nsb0796-638

PubMed ID: 1825792

Title: The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.

PubMed ID: 1825792

DOI: 10.1016/0925-4439(91)90044-a

PubMed ID: 9090523

Title: Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene.

PubMed ID: 9090523

DOI: 10.1002/(sici)1098-1004(1997)9:3<195::aid-humu1>3.0.co;2-7

PubMed ID: 16698036

Title: Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis.

PubMed ID: 16698036

DOI: 10.1016/j.jmb.2006.04.004

PubMed ID: 2970528

Title: A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant.

PubMed ID: 2970528

DOI: 10.1111/j.1471-4159.1988.tb01836.x

PubMed ID: 2522679

Title: The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease.

PubMed ID: 2522679

DOI: 10.1126/science.2522679

PubMed ID: 2144098

Title: A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant).

PubMed ID: 2144098

PubMed ID: 2140574

Title: Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase.

PubMed ID: 2140574

DOI: 10.1016/s0021-9258(19)38870-2

PubMed ID: 1837283

Title: Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments.

PubMed ID: 1837283

DOI: 10.1016/0888-7543(91)90109-r

PubMed ID: 1532289

Title: Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.

PubMed ID: 1532289

PubMed ID: 1384323

Title: A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.

PubMed ID: 1384323

PubMed ID: 1302612

Title: A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.

PubMed ID: 1302612

DOI: 10.1093/hmg/1.9.759

PubMed ID: 1301189

Title: A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family.

PubMed ID: 1301189

DOI: 10.1002/humu.1380010106

PubMed ID: 1301190

Title: Novel Tay-Sachs disease mutations from China.

PubMed ID: 1301190

DOI: 10.1002/humu.1380010107

PubMed ID: 7902672

Title: A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.

PubMed ID: 7902672

PubMed ID: 8490625

Title: Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.

PubMed ID: 8490625

DOI: 10.1093/hmg/2.1.61

PubMed ID: 8445615

Title: Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.

PubMed ID: 8445615

DOI: 10.1136/jmg.30.2.123

PubMed ID: 7951261

Title: Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.

PubMed ID: 7951261

DOI: 10.1002/humu.1380040112

PubMed ID: 7837766

Title: Molecular genetics of Tay-Sachs disease in Japan.

PubMed ID: 7837766

DOI: 10.1007/bf00711597

PubMed ID: 7717398

Title: Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.

PubMed ID: 7717398

PubMed ID: 8581357

Title: GM2 gangliosidosis B1 variant: biochemical and molecular characterization of hexosaminidase A.

PubMed ID: 8581357

DOI: 10.1006/bmme.1995.1018

PubMed ID: 7898712

Title: A new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype.

PubMed ID: 7898712

DOI: 10.1212/wnl.45.3.539

PubMed ID: 8730294

Title: Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant.

PubMed ID: 8730294

DOI: 10.1136/jmg.33.4.341

PubMed ID: 8757036

Title: Late-onset GM2 gangliosidosis: Ashkenazi Jewish family with an exon 5 mutation (Tyr180-->His) in the Hex A alpha-chain gene.

PubMed ID: 8757036

DOI: 10.1212/wnl.47.2.547

PubMed ID: 9150157

Title: Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

PubMed ID: 9150157

PubMed ID: 9338583

Title: Tay-Sachs disease and HEXA mutations among Moroccan Jews.

PubMed ID: 9338583

DOI: 10.1002/(sici)1098-1004(1997)10:4<295::aid-humu5>3.0.co;2-g

PubMed ID: 9375850

Title: Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the beta-hexosaminidase alpha-chain gene in two Portuguese patients.

PubMed ID: 9375850

DOI: 10.1002/(sici)1098-1004(1997)10:5<359::aid-humu4>3.0.co;2-a

PubMed ID: 9401008

Title: Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.

PubMed ID: 9401008

DOI: 10.1002/(sici)1098-1004(1997)10:6<451::aid-humu6>3.0.co;2-g

PubMed ID: 9603435

Title: W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.

PubMed ID: 9603435

DOI: 10.1002/(sici)1098-1004(1998)11:6<432::aid-humu3>3.0.co;2-z

PubMed ID: 14566483

Title: Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.

PubMed ID: 14566483

DOI: 10.1007/s10038-003-0080-9

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22723944

Title: Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.

PubMed ID: 22723944

DOI: 10.1371/journal.pone.0039122

PubMed ID: 27682588

Title: Tay Sachs disease mutations in HEXA target the alpha chain of hexosaminidase A to ER-associated degradation.

PubMed ID: 27682588

DOI: 10.1091/mbc.e16-01-0012

Sequence Information:

  • Length: 529
  • Mass: 60703
  • Checksum: DACB3E3992E57A47
  • Sequence:
    • MTSSRLWFSL LLAAAFAGRA TALWPWPQNF QTSDQRYVLY PNNFQFQYDV SSAAQPGCSV 
LDEAFQRYRD LLFGSGSWPR PYLTGKRHTL EKNVLVVSVV TPGCNQLPTL ESVENYTLTI 
NDDQCLLLSE TVWGALRGLE TFSQLVWKSA EGTFFINKTE IEDFPRFPHR GLLLDTSRHY 
LPLSSILDTL DVMAYNKLNV FHWHLVDDPS FPYESFTFPE LMRKGSYNPV THIYTAQDVK 
EVIEYARLRG IRVLAEFDTP GHTLSWGPGI PGLLTPCYSG SEPSGTFGPV NPSLNNTYEF 
MSTFFLEVSS VFPDFYLHLG GDEVDFTCWK SNPEIQDFMR KKGFGEDFKQ LESFYIQTLL 
DIVSSYGKGY VVWQEVFDNK VKIQPDTIIQ VWREDIPVNY MKELELVTKA GFRALLSAPW 
YLNRISYGPD WKDFYIVEPL AFEGTPEQKA LVIGGEACMW GEYVDNTNLV PRLWPRAGAV 
AERLWSNKLT SDLTFAYERL SHFRCELLRR GVQAQPLNVG FCEQEFEQT

Genular Protein ID: 2313615719

Symbol: H3BP20_HUMAN

Name: N/A

UniProtKB Accession Codes:

H3BP20

Database IDs:

ARBA 13 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 20 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 2 Ensembl 2 ExpressionAtlas 1 GO 6 Gene3D 2 GeneTree 1 HGNC 1 InterPro 5 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRNR 1 PIRSF 1 PIRSR 2 PRINTS 1 PeptideAtlas 2 Pfam 4 PhylomeDB 1 Proteomes 2 ProteomicsDB 2 RefSeq 1 Rhea 10 SAM 1 SMR 1 SUPFAM 2 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 540
  • Mass: 61999
  • Checksum: 96ED0A41744DF430
  • Sequence:
    • MTSSRLWFSL LLAAAFAGRA TALWPWPQNF QTSDQRYVLY PNNFQFQYDV SSAAQPGCSV 
LDEAFQRYRD LLFGSGSWPR PYLTGWPHQA YPVFLGKRHT LEKNVLVVSV VTPGCNQLPT 
LESVENYTLT INDDQCLLLS ETVWGALRGL ETFSQLVWKS AEGTFFINKT EIEDFPRFPH 
RGLLLDTSRH YLPLSSILDT LDVMAYNKLN VFHWHLVDDP SFPYESFTFP ELMRKGSYNP 
VTHIYTAQDV KEVIEYARLR GIRVLAEFDT PGHTLSWGPG IPGLLTPCYS GSEPSGTFGP 
VNPSLNNTYE FMSTFFLEVS SVFPDFYLHL GGDEVDFTCW KSNPEIQDFM RKKGFGEDFK 
QLESFYIQTL LDIVSSYGKG YVVWQEVFDN KVKIQPDTII QVWREDIPVN YMKELELVTK 
AGFRALLSAP WYLNRISYGP DWKDFYIVEP LAFEGTPEQK ALVIGGEACM WGEYVDNTNL 
VPRLWPRAGA VAERLWSNKL TSDLTFAYER LSHFRCELLR RGVQAQPLNV GFCEQEFEQT

Genular Protein ID: 1183119447

Symbol: B4DVA7_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DVA7

Database IDs:

ARBA 13 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 20 DNASU 1 DisGeNET 1 EC 1 EMBL 2 GO 4 Gene3D 2 InterPro 5 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRNR 1 PIRSF 1 PIRSR 2 PRINTS 1 PeptideAtlas 1 Pfam 4 RefSeq 1 Rhea 10 SAM 1 SUPFAM 2

Sequence Information:

  • Length: 540
  • Mass: 62013
  • Checksum: 25621BA3C0C1520A
  • Sequence:
    • MTSSRLWFSL LLAAAFAGRA TALWPWPQNF QTSDQRYVLY PNNFRFQYDV SSAAQPGCSV 
LDEAFQRYRD LLFGSGSWPR PYLTGWPHQA YPVFLGKRHT LEKNVLVVSV VTPGCNQLPT 
LESVENYTLT INDDQCLLLS ETVWGALRGL ETFSQLVWKS AEGTFFINKT EIEDFPRFPH 
RGLLLDTSRH YLPLSSILDT LDVMAYNKLN VFHWHLVDDP SFPYESFTFP ELMRKGSYNP 
VTHIYTAQDV KEVIEYARLR GIRVLAEFDT PGHTLSWGPG IPGLLTPCYS GSEPSGTFGP 
VNPSLNNTYE FMSTFFLEVS SVFPDFYLHL GGDEVDFTCW KSNPEIQDFM RKKGFGEDFK 
QLESFYIQTL LDIVSSYGKG YVVWQEVFDN KVKIQPDTII QVWREDIPVN YMKELELVTK 
AGFRALLSAP WYLNRISYGP DWKDFYVVEP LAFEGTPEQK ALVIGGEACM WGEYVDNTNL 
VPRLWPRAGA VAERLWSNKL TSDLTFAYER LSHFRCELLR RGVQAQPLNV GFCEQEFEQT

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.