CYP27B1
Gene name: cytochrome P450, family 27, subfamily B, polypeptide 1OMIM ID: 609506
Chromosome location: 12q14.1
Mutations
| Disease/Phenotype | Vitamin D Hydroxylation-Deficient Rickets, Type I |
|---|---|
| Reference transcript | NM_000785.3 |
| DNA Change | c.1494delA |
| A.A. Change | p.Arg499GlyfsX42 |
| Exon/Intron | exon 9 |
| Mutation Type | deletion |
| Reference | Kim CJ, Kaplan LE, Perwad F, Huang N, Sharma A, Choi Y, Miller WL, Portale AA.Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency. J Clin Endocrinol Metab. 2007 Aug;92(8):3177-82. |