GLA wt Allele - CISMeF

Preferred Label : GLA wt Allele;

NCIt synonyms : GALA; Alpha-Gal A Gene; Galactosidase Alpha wt Allele; Glucosidase, Alpha, Acid Gene; Galactosidase, Alpha Gene; Agalsidase Alfa Gene; Alpha-D-Galactoside Galactohydrolase 1 Gene;

NCIt definition : Human GLA wild-type allele is located in the vicinity of Xq22.1 and is approximately 15 kb in length. This allele, which encodes alpha-galactosidase A protein, is involved in the catabolism of glycosphingolipids. Mutations in this gene are associated with Fabry disease.;

GenBank Accession Number : X16889;

Détails

Origin ID

C217322;

OMIM relation
- Galactosidase, alpha [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq22.1 [NCIt concept]
gene_is_element_in_pathway
- Galactose Metabolism Pathway [NCIt concept]
- Globoside Metabolism Pathway [NCIt concept]
- Glycerolipid Metabolism Pathway [NCIt concept]
- Lysosome Assembly Pathway [NCIt concept]
- Sphingolipid Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Catabolic Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Lipid Metabolic Process [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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