GLA Chromosome X

Galactosidase alpha
547 variants 547 Health Risk

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
RS1555985091 Health Risk Pathogenic Fabry disease, Fabry disease
RS1555985175 Health Risk Pathogenic Fabry disease, Fabry disease
RS1555985827 Health Risk Pathogenic Fabry disease, Fabry disease
RS1555985829 Health Risk Pathogenic Fabry disease, Fabry disease
RS1555986307 Health Risk Pathogenic —
RS1555987162 Health Risk Pathogenic Fabry disease, Fabry disease
RS1555987215 Health Risk Pathogenic Fabry disease, Fabry disease
RS1555987232 Health Risk Pathogenic Fabry disease, Fabry disease, Fabry disease
RS1569302692 Health Risk Pathogenic —
RS1569302887 Health Risk Pathogenic Fabry disease, Fabry disease
RS1569303189 Health Risk Pathogenic —
RS1569303213 Health Risk Pathogenic Fabry disease, Fabry disease
RS1569304221 Health Risk Pathogenic Fabry disease, Fabry disease
RS1569304851 Health Risk Pathogenic Fabry disease, Fabry disease
RS1569306022 Health Risk Pathogenic Fabry disease, Fabry disease
RS1569306181 Health Risk Pathogenic Fabry disease, Fabry disease
RS1603037323 Health Risk Pathogenic Fabry disease, Fabry disease
RS1603037764 Health Risk Pathogenic Fabry disease, Fabry disease
RS1603038103 Health Risk Pathogenic Fabry disease, Fabry disease
RS1603041916 Health Risk Pathogenic Fabry disease, Fabry disease
RS1603047806 Health Risk Pathogenic Fabry disease, Fabry disease
RS181562693 Health Risk Pathogenic Fabry disease, Fabry disease
RS190347120 Health Risk Pathogenic Fabry disease, Fabry disease
RS1928135337 Health Risk Pathogenic Fabry disease, Fabry disease
RS1928137855 Health Risk Pathogenic Fabry disease, Fabry disease
RS1928168711 Health Risk Pathogenic Fabry disease, Fabry disease
RS1928171557 Health Risk Pathogenic Fabry disease, Fabry disease
RS1928174707 Health Risk Pathogenic Fabry disease, Fabry disease
RS1928189534 Health Risk Pathogenic Fabry disease, Fabry disease
RS1928199003 Health Risk Pathogenic Fabry disease, Fabry disease
RS1928199153 Health Risk Pathogenic Fabry disease, Fabry disease
RS1928287177 Health Risk Pathogenic Fabry disease, Fabry disease
RS1928326804 Health Risk Pathogenic Fabry disease, Fabry disease
RS1928406808 Health Risk Pathogenic Fabry disease, Fabry disease
RS1928582757 Health Risk Pathogenic Fabry disease, Fabry disease
RS1928583820 Health Risk Pathogenic Fabry disease, Fabry disease
RS1928595440 Health Risk Pathogenic Fabry disease, Fabry disease
RS199473684 Health Risk Pathogenic Fabry disease, cardiac variant, Cardiomyopathy
RS2147471207 Health Risk Pathogenic Fabry disease, Fabry disease
RS2147471760 Health Risk Pathogenic Fabry disease, Fabry disease
RS2147471979 Health Risk Pathogenic Fabry disease, Fabry disease
RS2147472395 Health Risk Pathogenic Fabry disease, Fabry disease
RS2147473129 Health Risk Pathogenic Fabry disease, Fabry disease
RS2147473470 Health Risk Pathogenic Fabry disease, Fabry disease
RS2147475916 Health Risk Pathogenic Fabry disease, Fabry disease
RS2147477422 Health Risk Pathogenic Nephrotic syndrome, Fabry disease, Nephrotic syndrome
RS2147477583 Health Risk Pathogenic Fabry disease, Fabry disease
RS2147477659 Health Risk Pathogenic Fabry disease, Fabry disease
RS2147477791 Health Risk Pathogenic Fabry disease, Fabry disease
RS2147477845 Health Risk Pathogenic Fabry disease, Fabry disease
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