Details for: GLA

Gene ID: 2717

Symbol: GLA

Ensembl ID: ENSG00000102393

Description: galactosidase alpha

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.85
    Marker Score: 1303
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 1.63
    Marker Score: 1388
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: 1.54
    Marker Score: 936
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 1.53
    Marker Score: 1365.5
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.48
    Marker Score: 2588
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168385
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 1.35
    Marker Score: 561.5
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 1.24
    Marker Score: 780
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.21
    Marker Score: 1607.5
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.19
    Marker Score: 40396
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.15
    Marker Score: 29387
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 1.14
    Marker Score: 761
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 1.13
    Marker Score: 2782
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.12
    Marker Score: 616
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.09
    Marker Score: 37744
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 1.08
    Marker Score: 270
  • Cell Name: prostate stromal cell (CL0002622)
    Fold Change: 1.08
    Marker Score: 270
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 1.04
    Marker Score: 1819.5
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 1.02
    Marker Score: 1171
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 1.02
    Marker Score: 426
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 1
    Marker Score: 663
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71714
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47939
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.98
    Marker Score: 2677
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.98
    Marker Score: 624
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30395
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 0.96
    Marker Score: 820
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.94
    Marker Score: 3713
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2396
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 0.94
    Marker Score: 5717
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.93
    Marker Score: 464
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 477
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 433
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 0.92
    Marker Score: 374
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.91
    Marker Score: 2369
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2698
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.87
    Marker Score: 1086.5
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.86
    Marker Score: 5235
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.86
    Marker Score: 3324.5
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.85
    Marker Score: 241
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 306
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.84
    Marker Score: 4790
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 0.82
    Marker Score: 435
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.82
    Marker Score: 374
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.81
    Marker Score: 363
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.8
    Marker Score: 3438
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 0.8
    Marker Score: 1553
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.79
    Marker Score: 393
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 0.79
    Marker Score: 808
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.79
    Marker Score: 1168.5
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1267
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 0.78
    Marker Score: 1935.5
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.78
    Marker Score: 311
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.77
    Marker Score: 405
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.77
    Marker Score: 1103
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.76
    Marker Score: 757
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 0.76
    Marker Score: 3168
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.76
    Marker Score: 579.5
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 0.75
    Marker Score: 545
  • Cell Name: alternatively activated macrophage (CL0000890)
    Fold Change: 0.75
    Marker Score: 312
  • Cell Name: platelet (CL0000233)
    Fold Change: 0.74
    Marker Score: 333
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.72
    Marker Score: 849
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 372
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.72
    Marker Score: 408
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 0.71
    Marker Score: 275
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 0.7
    Marker Score: 199
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.7
    Marker Score: 639
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.7
    Marker Score: 175
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7
    Marker Score: 446
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.69
    Marker Score: 356
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.69
    Marker Score: 517.5
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.68
    Marker Score: 174
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2836.5
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 173
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.67
    Marker Score: 676
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.67
    Marker Score: 382
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.66
    Marker Score: 37121
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.66
    Marker Score: 7412
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.66
    Marker Score: 272
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.65
    Marker Score: 228
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.65
    Marker Score: 224
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.64
    Marker Score: 1084
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.64
    Marker Score: 294
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.64
    Marker Score: 1452
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.63
    Marker Score: 7353
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.63
    Marker Score: 705
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 0.63
    Marker Score: 299
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.63
    Marker Score: 6376
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.62
    Marker Score: 358
  • Cell Name: exhausted T cell (CL0011025)
    Fold Change: 0.62
    Marker Score: 358
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.62
    Marker Score: 1298
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.61
    Marker Score: 417
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.61
    Marker Score: 632.5
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.61
    Marker Score: 402
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.6
    Marker Score: 1792
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.6
    Marker Score: 440
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 0.6
    Marker Score: 416
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.6
    Marker Score: 958
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 0.6
    Marker Score: 509
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.6
    Marker Score: 148

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Other Information

**Key characteristics:** - Gene name: GLA - Ensembl ID: ENSG00000102393 - Protein: AGAL_HUMAN (Alpha-D-galactosidase A) - Pathway: Alpha-galactosidase activity, Catalytic activity, Galactoside binding, Glycoside catabolic process, Glycosphingolipid catabolism, Glycosphingolipid metabolism, Hydrolase activity **Pathways and functions:** - The GLA gene is involved in the metabolism of galactoside, a sugar that is present in galactoproteins. - The enzyme is expressed in a variety of cell types, including monocytes, fibroblasts, and epithelial cells. - In monocytes and macrophages, the GLA enzyme is involved in the degradation of galactoproteins, which are a major source of galactoside in these cells. - In fibroblasts, the GLA enzyme is involved in the degradation of galactoproteins that are synthesized by the cell. - In epithelial cells, the GLA enzyme is involved in the degradation of galactoproteins that are synthesized by the cell. **Clinical significance:** - Mutations in the GLA gene have been linked to a number of human diseases, including galactosemia, which is a disorder caused by a deficiency of galactoside. - The GLA gene is also involved in the regulation of inflammation. - In one study, mutations in the GLA gene were found to be associated with an increased risk of developing rheumatoid arthritis.

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 EPD 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 19 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 2 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 26 PDBsum 21 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. For the full schema, download it here.