UROD wt Allele

Preferred Label : UROD wt Allele;

NCIt synonyms : PCT; Uroporphyrinogen Decarboxylase wt Allele; UPD; Uroporphyrinogen III Decarboxylase Gene;

NCIt definition : Human UROD wild-type allele is located in the vicinity of 1p34 and is approximately 4 kb in length. This allele, which encodes uroporphyrinogen decarboxylase protein, plays a role in the regulation of heme biosynthesis. Mutation of the gene is associated with both familial porphyria cutanea tarda and hepatoerythropoietic porphyria.;

GenBank Accession Number : BC001778;

Details

Origin ID

C95568;

UMLS CUI

C2987231;

False automatic mappings
- Porphyria cutanea tarda [ORDO Disease]
OMIM relation
- Uroporphyrinogen decarboxylase [OMIM gene]
See also inter- (CISMeF)
- Porphyria cutanea tarda [ICD-11 Sub-sub category]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Hepatoerythropoietic Porphyria [NCIt concept]
- Porphyria Cutanea Tarda [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p34 [NCIt concept]
gene_is_element_in_pathway
- Hemoglobin Chaperone Pathway [NCIt concept]
- Porphyrin and Chlorophyll Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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