HGD wt Allele - CISMeF

Preferred Label : HGD wt Allele;

NCIt synonyms : HGO; Homogentisate 1,2-Dioxygenase wt Allele; Homogentisate 1,2-Dioxygenase (Homogentisate Oxidase) Gene; Homogentisate Oxidase Gene; AKU;

NCIt definition : Human HGD wild-type allele is located in the vicinity of 3q13.33 and is approximately 54 kb in length. This allele, which encodes homogentisate 1,2-dioxygenase protein, is involved in phenylalanine and tyrosine catabolism. Mutations in the gene are associated with alkaptonuria.;

GenBank Accession Number : NM_000187;

Details

Origin ID

C218453;

OMIM relation
- Homogentisate 1,2-dioxygenase [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Tyrosine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Amino Acid Metabolic Process [NCIt concept]
- Catabolic Process [NCIt concept]
- Iron Chelation [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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