GALC wt Allele

Preferred Label : GALC wt Allele;

NCIt synonyms : Galactocerebrosidase wt Allele; Galactocerebrosidase (Krabbe Disease) Gene;

NCIt definition : Human GALC wild-type allele is located in the vicinity of 14q31.3 and is approximately 156 kb in length. This allele, which encodes galactocerebrosidase protein, is involved in catabolism of galactosylceramide. Mutations in this gene are associated with Krabbe disease.;

GenBank Accession Number : NM_000153;

Details

Origin ID

C121622;

UMLS CUI

C4054910;

OMIM relation
- Galactosylceramidase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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