Symbol
| GLA
| contributors: mct/npt - updated : 08-11-2023
|
HGNC name
| galactosidase, alpha
|
HGNC id
| 4296
|
corresponding disease(s)
|
GLAD
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein 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 model suggesting a possibility for enzyme remplacement therapy |