UROS wt Allele

Preferred Label : UROS wt Allele;

NCIt synonyms : Uroporphyrinogen III Decarboxylase Gene; Uroporphyrinogen III Synthase wt Allele; UROIIIS; Hydroxymethylbilane Hydrolyase Gene; Congenital Erythropoietic Porphyria Gene;

NCIt definition : Human UROS wild-type allele is located in the vicinity of 10q26.2 and is approximately 38 kb in length. This allele, which encodes uroporphyrinogen-III synthase protein, is involved in the synthesis of the porphyrin precursor uroporphyrinogen III. Mutations in the gene are associated with congenital erythropoietic porphyria.;

GenBank Accession Number : J03824;

Details

Origin ID

C213526;

OMIM relation
- Uroporphyrinogen III synthase [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 10q26.2 [NCIt concept]
gene_is_element_in_pathway
- Porphyrin and Chlorophyll Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]

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