GLA
Chr Xgalactosidase alpha
Also known as: GALA
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]
Clinical highlights
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GLA · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Fabry Disease Registry & Pregnancy Sub-registry
RECRUITINGNatural History in Fabry Disease With IVS4+919G>A Mutations
ACTIVE NOT RECRUITINGDETERMINE (Determining Extended Therapeutic Indications for Existing Drugs in Rare Molecularly Defined Indications Using a National Evaluation Platform Trial) - Master Screening Protocol
RECRUITINGAgalsidase Beta Long-Term Treatment Outcome for Fabry Disease Patients With IVS4 Mutation in Taiwan
ACTIVE NOT RECRUITINGA Long-Term Follow-Up Study in Severe Hemophilia A Subjects Who Received BMN 270 in a Prior BioMarin Clinical Trial (270-401)
ENROLLING BY INVITATIONA Study to Investigate the Efficacy, Safety and Tolerability of Votoplam in Participants With Huntington's Disease
RECRUITINGNon-interventional Study of Patients With Transthyretin (ATTR) Amyloidosis
RECRUITINGTaiwan Associated Genetic and Nongenetic Small Vessel Disease
RECRUITINGEffects Of Dietary Fats on Gut Microbiota Composition and Metabolic Activity in Healthy Adults
RECRUITINGClinical Evaluation of a Point of Care (POC) Assay to Identify Phenotypes in the Acute Respiratory Distress Syndrome
ACTIVE NOT RECRUITINGStudy of Talazoparib With Enzalutamide in Men With DDR Gene Mutated mCSPC
ACTIVE NOT RECRUITINGAnti-Inflammatory Diet in BRC Patients on Aromatase Inhibitors
RECRUITINGExternal Resources
Links to major genomics databases and tools