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
RS2147480438 Health Risk Pathogenic Fabry disease, Fabry disease
RS2147480442 Health Risk Pathogenic Fabry disease, Fabry disease
RS2147480502 Health Risk Pathogenic Fabry disease, Fabry disease
RS2147487313 Health Risk Pathogenic Fabry disease, Fabry disease
RS2147487375 Health Risk Pathogenic Fabry disease, Fabry disease
RS2147487622 Health Risk Pathogenic Fabry disease, Fabry disease
RS2147487659 Health Risk Pathogenic Fabry disease, Fabry disease
RS2147487830 Health Risk Pathogenic Fabry disease, Cardiovascular phenotype, Fabry disease
RS2147487930 Health Risk Pathogenic Fabry disease, Fabry disease
RS2520849107 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2520850153 Health Risk Pathogenic Fabry disease, Fabry disease
RS2520851203 Health Risk Pathogenic Fabry disease, Fabry disease
RS2520852439 Health Risk Pathogenic Fabry disease, Fabry disease
RS2520859612 Health Risk Pathogenic Fabry disease, Fabry disease
RS2520862276 Health Risk Pathogenic Fabry disease, Fabry disease
RS2520864097 Health Risk Pathogenic Fabry disease, Fabry disease
RS2520864961 Health Risk Pathogenic GLA-related disorder, Fabry disease, GLA-related disorder
RS2520887287 Health Risk Pathogenic Fabry disease, Fabry disease
RS2520887376 Health Risk Pathogenic Fabry disease, Fabry disease
RS2520887463 Health Risk Pathogenic Fabry disease, Fabry disease
RS2520895683 Health Risk Pathogenic Fabry disease, Fabry disease
RS2520897937 Health Risk Pathogenic Fabry disease, Fabry disease
RS2520913284 Health Risk Pathogenic Fabry disease, Fabry disease
RS2520944908 Health Risk Pathogenic Fabry disease, Fabry disease
RS28935485 Health Risk Pathogenic Fabry disease, cardiac variant, Fabry disease
RS28935494 Health Risk Pathogenic Fabry disease, Fabry disease, Fabry disease
RS387906483 Health Risk Pathogenic Fabry disease, Fabry disease, Fabry disease
RS398123198 Health Risk Pathogenic Fabry disease, Fabry disease, Fabry disease
RS398123202 Health Risk Pathogenic Fabry disease, Fabry disease, Fabry disease
RS398123206 Health Risk Pathogenic Fabry disease, Fabry disease, Fabry disease
RS398123207 Health Risk Pathogenic Fabry disease, Fabry disease
RS398123208 Health Risk Pathogenic Fabry disease, Fabry disease, Fabry disease
RS398123210 Health Risk Pathogenic Fabry disease, Fabry disease
RS398123211 Health Risk Pathogenic Fabry disease, Fabry disease
RS398123214 Health Risk Pathogenic —
RS398123216 Health Risk Pathogenic Fabry disease, Fabry disease, Fabry disease
RS398123217 Health Risk Pathogenic Fabry disease, Fabry disease
RS398123218 Health Risk Pathogenic —
RS398123219 Health Risk Pathogenic Cardiovascular phenotype, Fabry disease, Cardiovascular phenotype
RS398123220 Health Risk Pathogenic Fabry disease, Fabry disease
RS398123225 Health Risk Pathogenic Fabry disease, Fabry disease
RS398123226 Health Risk Pathogenic Fabry disease, Fabry disease, Fabry disease
RS398123229 Health Risk Pathogenic Fabry disease, Fabry disease
RS727503949 Health Risk Pathogenic Fabry disease, Cardiovascular phenotype, Fabry disease
RS727504350 Health Risk Pathogenic Fabry disease, Fabry disease, Fabry disease
RS730880440 Health Risk Pathogenic Fabry disease, GLA-related disorder, Cardiovascular phenotype
RS730880443 Health Risk Pathogenic Fabry disease, Fabry disease
RS730880444 Health Risk Pathogenic Fabry disease, Fabry disease, Fabry disease
RS730880447 Health Risk Pathogenic Fabry disease, Fabry disease
RS730880449 Health Risk Pathogenic Fabry disease, Fabry disease
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