Details for: GLA

Gene ID: 2717

Symbol: GLA

Ensembl ID: ENSG00000102393

Description: galactosidase 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: 124.7226
    Cell Significance Index: -19.4000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 70.1378
    Cell Significance Index: -17.7900
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 50.5525
    Cell Significance Index: -20.8300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 47.9219
    Cell Significance Index: -22.6300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 47.1869
    Cell Significance Index: -19.1700
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 42.5557
    Cell Significance Index: -21.8900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 20.5396
    Cell Significance Index: -19.6100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 17.1133
    Cell Significance Index: -21.1000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 7.6824
    Cell Significance Index: -20.5800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.4282
    Cell Significance Index: -21.4200
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.9556
    Cell Significance Index: -4.2800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.0385
    Cell Significance Index: 29.7700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.9862
    Cell Significance Index: 97.5600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.9610
    Cell Significance Index: 26.1600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.8800
    Cell Significance Index: 112.8100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.8417
    Cell Significance Index: 38.1500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7178
    Cell Significance Index: 43.0900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.7124
    Cell Significance Index: 389.0800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7022
    Cell Significance Index: 634.0700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.6589
    Cell Significance Index: 49.1100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.6514
    Cell Significance Index: 17.4300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6484
    Cell Significance Index: 70.5300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.6468
    Cell Significance Index: 75.3800
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.5986
    Cell Significance Index: 6.3600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5693
    Cell Significance Index: 92.6000
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.4802
    Cell Significance Index: 8.4900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4597
    Cell Significance Index: 23.8800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.4243
    Cell Significance Index: 58.2700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3868
    Cell Significance Index: 8.3800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.3409
    Cell Significance Index: 21.9900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.3024
    Cell Significance Index: 35.6700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2957
    Cell Significance Index: 56.2700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2520
    Cell Significance Index: 11.7500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1685
    Cell Significance Index: 4.8600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1617
    Cell Significance Index: 7.6000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.1355
    Cell Significance Index: 15.5300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1340
    Cell Significance Index: 24.1600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1235
    Cell Significance Index: 8.5400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1184
    Cell Significance Index: 3.3100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1129
    Cell Significance Index: 49.9100
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.0812
    Cell Significance Index: 9.2700
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0753
    Cell Significance Index: 0.7800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0746
    Cell Significance Index: 14.8000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0727
    Cell Significance Index: 8.9400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0703
    Cell Significance Index: 2.4700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0588
    Cell Significance Index: 1.5700
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.0422
    Cell Significance Index: 0.7800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.0366
    Cell Significance Index: 0.9400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0310
    Cell Significance Index: 4.0100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0127
    Cell Significance Index: 2.5400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0080
    Cell Significance Index: 15.1300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0071
    Cell Significance Index: 1.2100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0013
    Cell Significance Index: 0.8900
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0009
    Cell Significance Index: -0.0100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0031
    Cell Significance Index: -1.1200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0055
    Cell Significance Index: -4.0400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0055
    Cell Significance Index: -3.4200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0074
    Cell Significance Index: -13.5800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0075
    Cell Significance Index: -0.7700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0089
    Cell Significance Index: -13.7200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0097
    Cell Significance Index: -7.1400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0155
    Cell Significance Index: -21.0600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0175
    Cell Significance Index: -9.8800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0183
    Cell Significance Index: -11.6500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0210
    Cell Significance Index: -15.9200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0306
    Cell Significance Index: -13.8900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0340
    Cell Significance Index: -1.7700
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0491
    Cell Significance Index: -0.4000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0493
    Cell Significance Index: -1.0500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0518
    Cell Significance Index: -1.8000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0559
    Cell Significance Index: -1.4700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0569
    Cell Significance Index: -11.9900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0616
    Cell Significance Index: -0.8400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0691
    Cell Significance Index: -4.8900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0733
    Cell Significance Index: -10.6500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0767
    Cell Significance Index: -22.0800
  • Cell Name: monocyte-derived dendritic cell (CL0011031)
    Fold Change: -0.0972
    Cell Significance Index: -1.6700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0980
    Cell Significance Index: -5.5000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1658
    Cell Significance Index: -3.4700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1703
    Cell Significance Index: -10.4700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1915
    Cell Significance Index: -3.2100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1980
    Cell Significance Index: -20.6200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2018
    Cell Significance Index: -12.7200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2061
    Cell Significance Index: -10.8200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2064
    Cell Significance Index: -6.6100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2256
    Cell Significance Index: -5.6400
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2309
    Cell Significance Index: -3.4800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2527
    Cell Significance Index: -19.4000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2604
    Cell Significance Index: -20.6200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2639
    Cell Significance Index: -16.1800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.2676
    Cell Significance Index: -5.8600
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: -0.2770
    Cell Significance Index: -1.7100
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.2939
    Cell Significance Index: -4.1200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3069
    Cell Significance Index: -20.6400
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.4136
    Cell Significance Index: -6.8200
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.4192
    Cell Significance Index: -6.6500
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.4206
    Cell Significance Index: -2.8500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.4304
    Cell Significance Index: -12.6400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.4305
    Cell Significance Index: -12.6800
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.4351
    Cell Significance Index: -4.1400

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:** 1. **Enzymatic Activity:** GLA is a hydrolase enzyme that catalyzes the hydrolysis of glycosphingolipids and glycosides, releasing glucose and galactose residues. 2. **Expression Patterns:** GLA is expressed in cells of the immune system, including CD14-low monocytes, myeloid dendritic cells, and plasmablasts, as well as in cells of the placenta, such as extravillous trophoblasts. 3. **Cellular Localization:** GLA is primarily localized to the Golgi apparatus and lysosomes, where it regulates glycosphingolipid and glycoside metabolism. 4. **Regulatory Functions:** GLA negatively regulates nitric oxide biosynthesis and neutrophil degranulation, suggesting a role in modulating immune responses. **Pathways and Functions:** 1. **Glycosphingolipid Catabolism:** GLA is involved in the degradation of glycosphingolipids, which are critical components of cell membranes and play a role in cell signaling and immune regulation. 2. **Immune System Regulation:** GLA negatively regulates nitric oxide biosynthesis and neutrophil degranulation, suggesting a role in modulating immune responses and preventing excessive inflammation. 3. **Negative Regulation of Nitric Oxide Biosynthesis:** GLA inhibits the activity of inducible nitric oxide synthase (iNOS), a key enzyme involved in the production of nitric oxide (NO), a potent antimicrobial agent. 4. **Neutrophil Degranulation:** GLA regulates the degranulation of neutrophils, which is critical for the resolution of inflammation and tissue repair. **Clinical Significance:** 1. **Immune Disorders:** Dysregulation of GLA has been implicated in various immune disorders, including autoimmune diseases, such as rheumatoid arthritis and lupus, and inflammatory diseases, such as atherosclerosis and asthma. 2. **Cancer:** GLA has been shown to inhibit the growth of cancer cells, suggesting a potential role in cancer therapy. 3. **Infectious Diseases:** GLA plays a critical role in the innate immune response, and dysregulation of GLA has been implicated in the pathogenesis of infectious diseases, such as sepsis and tuberculosis. 4. **Neurological Disorders:** GLA has been implicated in the pathogenesis of neurological disorders, such as Alzheimer's disease and Parkinson's disease, where dysregulation of glycosphingolipid metabolism has been observed. In conclusion, GLA is a critical enzyme involved in immune regulation and cellular metabolism. Its dysregulation has been implicated in various immune disorders, cancer, infectious diseases, and neurological disorders, highlighting the importance of GLA in maintaining immune homeostasis and preventing disease.

Genular Protein ID: 616975236

Symbol: AGAL_HUMAN

Name: Alpha-D-galactosidase A

UniProtKB Accession Codes:

P06280 Q6LER7

Database IDs:

AGR 1 Allergome 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 CTD 1 ChEBI 8 ChEMBL 1 ChiTaRS 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EC 1 EMBL 10 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 19 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 31 PDBsum 31 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 4 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissLipids 1 TreeFam 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3036505

Title: Signal sequence and DNA-mediated expression of human lysosomal alpha-galactosidase A.

PubMed ID: 3036505

DOI: 10.1111/j.1432-1033.1987.tb11438.x

PubMed ID: 2542896

Title: Nucleotide sequence of the human alpha-galactosidase A gene.

PubMed ID: 2542896

DOI: 10.1093/nar/17.8.3301

PubMed ID: 7626884

Title: Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci.

PubMed ID: 7626884

DOI: 10.1007/bf00364796

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

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: 3014515

Title: Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme.

PubMed ID: 3014515

DOI: 10.1073/pnas.83.13.4859

PubMed ID: 2892762

Title: A genomic clone containing the promoter for the gene encoding the human lysosomal enzyme, alpha-galactosidase A.

PubMed ID: 2892762

DOI: 10.1016/0378-1119(87)90374-x

PubMed ID: 2836863

Title: Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region.

PubMed ID: 2836863

DOI: 10.1073/pnas.85.11.3903

PubMed ID: 7503918

Title: Editing of human alpha-galactosidase RNA resulting in a pyrimidine to purine conversion.

PubMed ID: 7503918

DOI: 10.1093/nar/23.14.2636

PubMed ID: 8804427

Title: Only sphingolipid activator protein B (SAP-B or saposin B) stimulates the degradation of globotriaosylceramide by recombinant human lysosomal alpha-galactosidase in a detergent-free liposomal system.

PubMed ID: 8804427

DOI: 10.1016/0014-5793(96)00863-0

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: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 15003450

Title: The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.

PubMed ID: 15003450

DOI: 10.1016/j.jmb.2004.01.035

PubMed ID: 7911050

Title: Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.

PubMed ID: 7911050

DOI: 10.1002/humu.1380030204

PubMed ID: 2152885

Title: A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.

PubMed ID: 2152885

DOI: 10.1016/0014-5793(90)80046-l

PubMed ID: 1846223

Title: An atypical variant of Fabry's disease with manifestations confined to the myocardium.

PubMed ID: 1846223

DOI: 10.1056/nejm199102073240607

PubMed ID: 2171331

Title: Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.

PubMed ID: 2171331

PubMed ID: 2539398

Title: Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.

PubMed ID: 2539398

DOI: 10.1172/jci114027

PubMed ID: 1315715

Title: Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.

PubMed ID: 1315715

DOI: 10.1007/bf00207037

PubMed ID: 7504405

Title: Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

PubMed ID: 7504405

PubMed ID: 8395937

Title: Mutation analysis in patients with the typical form of Anderson-Fabry disease.

PubMed ID: 8395937

DOI: 10.1093/hmg/2.7.1051

PubMed ID: 8069316

Title: Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease.

PubMed ID: 8069316

DOI: 10.1093/hmg/3.4.667

PubMed ID: 7531540

Title: Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.

PubMed ID: 7531540

DOI: 10.1093/hmg/3.10.1795

PubMed ID: 7575533

Title: Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.

PubMed ID: 7575533

DOI: 10.1006/bbrc.1995.2416

PubMed ID: 7759078

Title: Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.

PubMed ID: 7759078

DOI: 10.1007/bf00223869

PubMed ID: 7599642

Title: Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.

PubMed ID: 7599642

DOI: 10.1002/humu.1380050316

PubMed ID: 7596372

Title: An atypical variant of Fabry's disease in men with left ventricular hypertrophy.

PubMed ID: 7596372

DOI: 10.1056/nejm199508033330504

PubMed ID: 8738659

Title: Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.

PubMed ID: 8738659

PubMed ID: 8875188

Title: Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.

PubMed ID: 8875188

DOI: 10.1159/000472202

PubMed ID: 8834244

Title: Novel trinucleotide deletion in Fabry's disease.

PubMed ID: 8834244

DOI: 10.1007/bf02267068

PubMed ID: 8931708

Title: Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease.

PubMed ID: 8931708

DOI: 10.1007/s004390050292

PubMed ID: 8807334

Title: A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene.

PubMed ID: 8807334

DOI: 10.1002/(sici)1098-1004(1996)8:1<38::aid-humu5>3.0.co;2-l

PubMed ID: 8863162

Title: Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

PubMed ID: 8863162

DOI: 10.1136/jmg.33.8.682

PubMed ID: 9105656

Title: Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.

PubMed ID: 9105656

DOI: 10.1016/s0387-7604(96)00486-x

PubMed ID: 9100224

Title: Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.

PubMed ID: 9100224

DOI: 10.1007/bf03401671

PubMed ID: 9554750

Title: Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease.

PubMed ID: 9554750

DOI: 10.1002/(sici)1098-1004(1998)11:4<328::aid-humu11>3.0.co;2-n

PubMed ID: 9452068

Title: A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease.

PubMed ID: 9452068

DOI: 10.1002/humu.1380110147

PubMed ID: 9452090

Title: Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.

PubMed ID: 9452090

DOI: 10.1002/humu.1380110169

PubMed ID: 9452111

Title: Mutation analysis in 11 French patients with Fabry disease.

PubMed ID: 9452111

DOI: 10.1002/humu.1380110190

PubMed ID: 10208848

Title: Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.

PubMed ID: 10208848

DOI: 10.1006/bbrc.1999.0310

PubMed ID: 10090526

Title: The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A.

PubMed ID: 10090526

DOI: 10.1016/s0009-8981(98)00133-8

PubMed ID: 10838196

Title: Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.

PubMed ID: 10838196

DOI: 10.1016/s0925-4439(00)00024-7

PubMed ID: 10666480

Title: Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.

PubMed ID: 10666480

DOI: 10.1007/bf03401993

PubMed ID: 11076046

Title: Identification of four novel mutations in five unrelated Korean families with Fabry disease.

PubMed ID: 11076046

DOI: 10.1034/j.1399-0004.2000.580311.x

PubMed ID: 10916280

Title: Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.

PubMed ID: 10916280

PubMed ID: 11295840

Title: Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.

PubMed ID: 11295840

DOI: 10.1002/humu.41

PubMed ID: 11668641

Title: Fabry disease: 20 novel GLA mutations in 35 families.

PubMed ID: 11668641

DOI: 10.1002/humu.1219

PubMed ID: 11889412

Title: Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.

PubMed ID: 11889412

DOI: 10.1097/00005792-200203000-00003

PubMed ID: 12694230

Title: Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease.

PubMed ID: 12694230

DOI: 10.1034/j.1399-0004.2003.00050.x

PubMed ID: 12786754

Title: Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease.

PubMed ID: 12786754

DOI: 10.1034/j.1399-0004.2003.00077.x

PubMed ID: 15162124

Title: Remarkable variability in renal disease in a large Slovenian family with Fabry disease.

PubMed ID: 15162124

DOI: 10.1038/sj.ejhg.5201184

PubMed ID: 15712228

Title: Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.

PubMed ID: 15712228

DOI: 10.1002/humu.20144

PubMed ID: 16533976

Title: Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome.

PubMed ID: 16533976

DOI: 10.1001/archneur.63.3.453

PubMed ID: 19621417

Title: Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

PubMed ID: 19621417

DOI: 10.1002/humu.21074

PubMed ID: 26415523

Title: Functional and clinical consequences of novel alpha-galactosidase A mutations in Fabry disease.

PubMed ID: 26415523

DOI: 10.1002/humu.22910

PubMed ID: 27211852

Title: A novel mutation of alpha-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family.

PubMed ID: 27211852

DOI: 10.1080/00207454.2016.1191483

PubMed ID: 27142856

Title: Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant.

PubMed ID: 27142856

DOI: 10.1186/s13023-016-0441-z

Sequence Information:

  • Length: 429
  • Mass: 48767
  • Checksum: 613F8BF21B107D7B
  • Sequence:
    • MQLRNPELHL GCALALRFLA LVSWDIPGAR ALDNGLARTP TMGWLHWERF MCNLDCQEEP 
DSCISEKLFM EMAELMVSEG WKDAGYEYLC IDDCWMAPQR DSEGRLQADP QRFPHGIRQL 
ANYVHSKGLK LGIYADVGNK TCAGFPGSFG YYDIDAQTFA DWGVDLLKFD GCYCDSLENL 
ADGYKHMSLA LNRTGRSIVY SCEWPLYMWP FQKPNYTEIR QYCNHWRNFA DIDDSWKSIK 
SILDWTSFNQ ERIVDVAGPG GWNDPDMLVI GNFGLSWNQQ VTQMALWAIM AAPLFMSNDL 
RHISPQAKAL LQDKDVIAIN QDPLGKQGYQ LRQGDNFEVW ERPLSGLAWA VAMINRQEIG 
GPRSYTIAVA SLGKGVACNP ACFITQLLPV KRKLGFYEWT SRLRSHINPT GTVLLQLENT 
MQMSLKDLL

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.