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
RS869312270 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312273 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312276 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312278 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312283 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312287 Health Risk Pathogenic Fabry disease, Fabry disease, Fabry disease
RS869312298 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312301 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312304 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312305 Health Risk Pathogenic Fabry disease, Fabry disease, Fabry disease
RS869312306 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312307 Health Risk Pathogenic Fabry disease, Fabry disease, Fabry disease
RS869312312 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312313 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312315 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312316 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312318 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312320 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312346 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312347 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312350 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312353 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312377 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312380 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312386 Health Risk Pathogenic Fabry disease, Fabry disease, Fabry disease
RS869312389 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312390 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312391 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312392 Health Risk Pathogenic Cardiovascular phenotype, Fabry disease, Cardiovascular phenotype
RS869312393 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312395 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312398 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312401 Health Risk Pathogenic Fabry disease, Fabry disease, Fabry disease
RS869312402 Health Risk Pathogenic Fabry disease, Fabry disease, Fabry disease
RS869312403 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312426 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312427 Health Risk Pathogenic Fabry disease, Fabry disease, Fabry disease
RS869312431 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312432 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312433 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312434 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312444 Health Risk Pathogenic Fabry disease, Thyroid cancer, nonmedullary
RS869312446 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312449 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312450 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312452 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312454 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312455 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312456 Health Risk Pathogenic Fabry disease, Fabry disease
RS869312458 Health Risk Pathogenic GLA-related disorder, Fabry disease, GLA-related disorder
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