FAH wt Allele - CISMeF

Preferred Label : FAH wt Allele;

NCIt synonyms : Fumarylacetoacetate Hydrolase wt Allele; Fumarylacetoacetate Hydrolase (Fumarylacetoacetase) Gene;

NCIt definition : Human FAH wild-type allele is located in the vicinity of 15q25.1 and is approximately 34 kb in length. This allele, which encodes fumarylacetoacetase protein, plays a role in tyrosine degradation. Mutation of the gene is associated with tyrosinemia type 1.;

NCI Metathesaurus CUI : CL1643032;

GenBank Accession Number : M55150;

Details

Origin ID

C177196;

UMLS CUI

C5443959;

OMIM relation
- Fumarylacetoacetate hydrolase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 15q25.1 [NCIt concept]
gene_is_element_in_pathway
- Tyrosine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Catabolic Process [NCIt concept]
- Hydrolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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