GLA Chromosome X
Galactosidase alpha
Upload your DNA to see your personal genotypes for variants in GLA.
What This Gene Does
This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Galactosidases alpha
Locus Type
gene with protein product
Location
Xq22.1
Ensembl
ENSG00000102393
Associated Conditions (14)
Fabry disease
Cardiovascular phenotype
GLA-related disorder
Cardiomyopathy
Migalastat response
Charcot-Marie-Tooth disease
Primary familial hypertrophic cardiomyopathy
Nonpapillary renal cell carcinoma
cardiac variant
Hypertrophic cardiomyopathy
Nephrotic syndrome
Thyroid cancer
nonmedullary
1
Key Variants
RS104894831
Conflicting classifications of pathogenicity
Fabry disease, Fabry disease, Fabry disease
Health Risk
RS104894833
Conflicting classifications of pathogenicity
Fabry disease, Cardiovascular phenotype, GLA-related disorder
Health Risk
RS111812846
Conflicting classifications of pathogenicity
Fabry disease, Fabry disease, Fabry disease
Health Risk
RS112341092
Conflicting classifications of pathogenicity
Fabry disease, Fabry disease, Fabry disease
Health Risk
RS1178979608
Conflicting classifications of pathogenicity
Fabry disease, Fabry disease
Health Risk
RS144060196
Conflicting classifications of pathogenicity
Fabry disease, Cardiovascular phenotype, Fabry disease
Health Risk
RS144994244
Conflicting classifications of pathogenicity
Fabry disease, Cardiovascular phenotype, Fabry disease
Health Risk
RS1463398466
Conflicting classifications of pathogenicity
Fabry disease, Fabry disease
Health Risk
RS148158093
Conflicting classifications of pathogenicity
Fabry disease, Cardiovascular phenotype, Cardiomyopathy
Health Risk
RS149391489
Conflicting classifications of pathogenicity
Fabry disease, Cardiovascular phenotype, Cardiomyopathy
Health Risk
RS151208856
Conflicting classifications of pathogenicity
Fabry disease, Cardiovascular phenotype, GLA-related disorder
Health Risk
RS1555984843
Conflicting classifications of pathogenicity
Fabry disease, Fabry disease
Health Risk
All Variants (547)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057516429 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS1057519609 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS113173389 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease, Fabry disease |
| RS113993943 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease, Fabry disease |
| RS1555984717 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS1555984776 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS1555985010 | Health Risk | Likely pathogenic | Fabry disease, Cardiovascular phenotype, Fabry disease |
| RS1555985200 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS1555985814 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease, Fabry disease |
| RS1569302985 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS1569304218 | Health Risk | Likely pathogenic | — |
| RS1603038411 | Health Risk | Likely pathogenic | Primary familial hypertrophic cardiomyopathy, Fabry disease, Primary familial hypertrophic cardiomyopathy |
| RS1928125824 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS1928172876 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS1928194190 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS1928195468 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS1928196520 | Health Risk | Likely pathogenic | — |
| RS1928196686 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS1928279286 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS1928287649 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS1928323615 | Health Risk | Likely pathogenic | Fabry disease, Cardiovascular phenotype, Fabry disease |
| RS201819574 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS2147471075 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS2147471929 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS2147472959 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS2147473404 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS2147476203 | Health Risk | Likely pathogenic | — |
| RS2147487148 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS2520852645 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2520864190 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS2520869335 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS2520911966 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS2520912584 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS2520912945 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS2520913256 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS2520913405 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS2520914004 | Health Risk | Likely pathogenic | — |
| RS2520943061 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS28935493 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease, Fabry disease |
| RS398123203 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease, Fabry disease |
| RS398123221 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease, Fabry disease |
| RS727504773 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS782197072 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS797044774 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease, Fabry disease |
| RS869025435 | Health Risk | Likely pathogenic | Fabry disease, Fabry disease |
| RS869312136 | Health Risk | Likely pathogenic | Fabry disease, Migalastat response, Fabry disease |
| RS869312137 | Health Risk | Likely pathogenic | Migalastat response, Fabry disease, Migalastat response |
| RS869312139 | Health Risk | Likely pathogenic | Fabry disease, Migalastat response, Fabry disease |
| RS869312149 | Health Risk | Likely pathogenic | Migalastat response, Fabry disease, Nonpapillary renal cell carcinoma |
| RS869312150 | Health Risk | Likely pathogenic | Migalastat response, Fabry disease, Migalastat response |