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FLASH GENE
Symbol GLA contributors: mct/npt - updated : 08-11-2023
HGNC name galactosidase, alpha
HGNC id 4296
ASSOCIATED DISORDERS
corresponding disease(s) GLAD
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
with cellular accumulation of sphingolipids may lead to podocyturia and renal loss of function with increased cardiovascular morbidity and mortality in affected patients
Susceptibility to sporadic Parkinson disease
Variant & Polymorphism other
  • a variant (NG_007119.1:g.4488C>G) within the promoter region, increasibng the risk of Parkinson disease
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    animal model suggesting a possibility for enzyme remplacement therapy