HPD wt Allele - CISMeF

Preferred Label : HPD wt Allele;

NCIt synonyms : 4HPPD; 4-HPPD; HPPDASE; GLOD3; 4-Hydroxyphenylpyruvate Dioxygenase wt Allele; PPD;

NCIt definition : Human HPD wild-type allele is located in the vicinity of 12q24.31 and is approximately 49 kb in length. This allele, which encodes 4-hydroxyphenylpyruvate dioxygenase protein, plays a role in the degradation of tyrosine. Mutation of the gene is associated with tyrosinemia type 3 and hawkinsinuria.;

NCI Metathesaurus CUI : CL1643014;

GenBank Accession Number : BC014790;

Details

Origin ID

C177228;

UMLS CUI

C5443963;

Automatic exact mappings (from CISMeF team)
- 4-hydroxyphenylpyruvate dioxygenase [ORDO Gene]
- Progressive pseudorheumatoid dysplasia [OMIM Phenotype]
- tuberculin [MeSH Descriptor]
- visual system homeobox 1 [ORDO Gene]
OMIM relation
- 4-hydroxyphenylpyruvate dioxygenase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q24.31 [NCIt concept]
gene_is_element_in_pathway
- Phenylalanine Metabolism Pathway [NCIt concept]
- Tyrosine Metabolism Pathway [NCIt concept]
- Ubiquinone Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Catabolic Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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