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
RS730880452 Health Risk Pathogenic Fabry disease, Fabry disease
RS730880453 Health Risk Pathogenic Fabry disease, Fabry disease
RS782085638 Health Risk Pathogenic Fabry disease, Fabry disease
RS782298737 Health Risk Pathogenic Fabry disease, Fabry disease
RS782449839 Health Risk Pathogenic Fabry disease, Fabry disease
RS782544621 Health Risk Pathogenic Fabry disease, Fabry disease
RS782598150 Health Risk Pathogenic Fabry disease, Fabry disease, Fabry disease
RS797044497 Health Risk Pathogenic Fabry disease, Fabry disease
RS797044498 Health Risk Pathogenic Fabry disease, Fabry disease
RS797044613 Health Risk Pathogenic Fabry disease, Cardiovascular phenotype, Fabry disease
RS797044669 Health Risk Pathogenic Fabry disease, Fabry disease, Fabry disease
RS797044670 Health Risk Pathogenic —
RS797044702 Health Risk Pathogenic Fabry disease, Cardiovascular phenotype, Fabry disease
RS797044747 Health Risk Pathogenic Fabry disease, Fabry disease
RS797044768 Health Risk Pathogenic Fabry disease, Fabry disease
RS797044769 Health Risk Pathogenic —
RS868937910 Health Risk Pathogenic Fabry disease, Cardiovascular phenotype, Fabry disease
RS868966337 Health Risk Pathogenic Fabry disease, Fabry disease, Nonpapillary renal cell carcinoma
RS868993843 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312138 Health Risk Pathogenic Migalastat response, Fabry disease, Migalastat response
RS869312140 Health Risk Pathogenic Migalastat response, Fabry disease, Migalastat response
RS869312141 Health Risk Pathogenic Migalastat response, Fabry disease, Fabry disease
RS869312146 Health Risk Pathogenic Fabry disease, Migalastat response, Fabry disease
RS869312154 Health Risk Pathogenic Migalastat response, Fabry disease, Migalastat response
RS869312158 Health Risk Pathogenic Fabry disease, Migalastat response, Fabry disease
RS869312204 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312213 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312214 Health Risk Pathogenic Fabry disease, Fabry disease, Fabry disease
RS869312215 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312216 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312218 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312219 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312220 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312223 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312224 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312225 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312227 Health Risk Pathogenic Fabry disease, Fabry disease, Fabry disease
RS869312235 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312236 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312237 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312240 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312244 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312247 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312252 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312256 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312258 Health Risk Pathogenic Fabry disease, Cardiovascular phenotype, Fabry disease
RS869312259 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312265 Health Risk Pathogenic Fabry disease, Cardiovascular phenotype, Fabry disease
RS869312268 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312269 Health Risk Pathogenic Fabry disease, Fabry disease
« Prev 1 ... 4 5 6 7 8 9 10 11 Next »
Sign Up to Analyze Your DNA Log In