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]

  • Carbohydrate metabolic process
  • Glycosphingolipid metabolic process
  • Metabolic process
  • Oligosaccharide metabolic process
  • Glycoside catabolic process
  • Fabry disease
  • Rare cardiomyopathy
  • Hypertrophic cardiomyopathy
  • Atrial standstill 1
  • Angiokeratoma
  • Hypertrophic Cardiomyopathy
  • General Cardiomyopathy

Based on Ayass Bioscience, LLC Data Analysis

HM-VUS Prevalence

% 0.204290091930541

Ratio of samples with at least 1 High/Med VUS variant (Computed from Ayass Bioscience Samples)

High/Med VUS Variants

T=0.000545(100/183467,GnomAD_exome)
T=0.000486(61/125568,TOPMED)
T=0.00095(84/88768,ALFAProject)
T=0.00077(68/87759,ExAC)
T=0.00018(4/21966,GnomAD)
T=0.0011(4/3708,TWINSUK)
A=0.0007(2/2922,KOREAN)
T=0.0003(1/2889,ALSPAC)
C=0.0(0/2,SGDP_PRJ)