WormBase Tree Display for Gene: HGNC:4296
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HGNC:4296 | Identity | Name | CGC_name | Gla | Inferred_automatically | AGR_import |
---|---|---|---|---|---|---|
Other_name | RGD: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_name | Gla | |||||
DB_info | Database | HGNC | id | 4296 | ||
AGR | cURI | HGNC:4296 | ||||
EnsEMBL | ENSEMBL_geneID | ENSG00000102393 | ||||
UniProt | UniProt_AC | P06280 | ||||
OMIM | gene | 300644 | ||||
DO | id | DOID:14499 | ||||
Species | Homo sapiens | |||||
Status | Live | |||||
Gene_info | Biotype | SO:0001217 | ||||
Ortholog | WBGene00011095 | Caenorhabditis elegans | From_analysis | Hieranoid | ||
Inparanoid | ||||||
OMA | ||||||
OrthoFinder | ||||||
OrthoInspector | ||||||
Panther | ||||||
SonicParanoid | ||||||
Structured_description | Automated_description | 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] | Inferred_automatically | AGR_import |