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WormBase Tree Display for Gene: HGNC:4296

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Name Class

HGNC:4296IdentityNameCGC_nameGlaInferred_automaticallyAGR_import
Other_nameRGD:1344140
GALA
agalsidase alfa
alpha-D-galactosidase A
alpha-D-galactoside galactohydrolase 1
alpha-gal A
alpha-galactosidase A
galactosidase, alpha
galactosylgalactosylglucosylceramidase GLA
melibiase
Public_nameGla
DB_infoDatabaseHGNCid4296
AGRcURIHGNC:4296
EnsEMBLENSEMBL_geneIDENSG00000102393
UniProtUniProt_ACP06280
OMIMgene300644
DOidDOID:14499
SpeciesHomo sapiens
StatusLive
Gene_infoBiotypeSO:0001217
OrthologWBGene00011095Caenorhabditis elegansFrom_analysisHieranoid
Inparanoid
OMA
OrthoFinder
OrthoInspector
Panther
SonicParanoid
Structured_descriptionAutomated_descriptionThis 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]Inferred_automaticallyAGR_import