Preferred Label : CYP27B1 wt Allele;
NCIt synonyms : CP2B; PDDR; CYP27B; VDD1; VDDR; CYP1ALPHA; CYP1; VDR; VDDRI; P450c1; Cytochrome P450 Family 27 Subfamily B Member 1 wt Allele; Cytochrome P450, Subfamily XXVIIB, Polypeptide 1 Gene; VDDR I; Cytochrome P450 Subfamily XXVIIB (25-Hydroxyvitamin D-1-Alpha-Hydroxylase) Polypeptide
1 Gene; Cytochrome P450, Family 27, Subfamily B, Polypeptide 1 Gene;
NCIt definition : Human CYP27B1 wild-type allele is located within 12q13.1-q13.3 and is approximately
5 kb in length. This allele, which encodes 25-hydroxyvitamin D-1 alpha hydroxylase,
mitochondrial protein, is involved in the biosynthesis of the active form of vitamin
D3. Many allelic variants of the CYP27B1 gene encode proteins that are either inactive
or exhibit reduced catalytic activity which, in turn, results in vitamin D-dependent
rickets type I.;
GenBank Accession Number : NM_000785;
Origin ID : C52353;
UMLS CUI : C1706113;
OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_associated_with_disease
- gene_found_in_organism
- gene_has_physical_location
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
