PAH wt Allele - CISMeF

Preferred Label : PAH wt Allele;

NCIt synonyms : Phenylalanine Hydroxylase wt Allele; PKU1; PH; PKU;

NCIt definition : Human PAH wild-type allele is located in the vicinity of 12q23.2 and is approximately 122 kb in length. This allele, which encodes phenylalanine-4-hydroxylase protein, plays a role in the catabolism of phenylalanine. Loss of function mutations in the gene are associated with both hyperphenylalaninemia and phenylketonuria.;

NCI Metathesaurus CUI : CL1926420;

GenBank Accession Number : U49897;

Details

Origin ID

C204184;

UMLS CUI

C5890970;

OMIM relation
- Phenylalanine hydroxylase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Folate Biosynthesis Pathway [NCIt concept]
- Phenylalanine Metabolism Pathway [NCIt concept]
- Phenylalanine, Tyrosine and Tryptophan Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Amino Acid Biosynthesis [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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