||ORF Nucleotide Sequence (Length: 1527bp)
||pcDNA3.1-C-(k)DYK or customized vector
|Tag on pcDNA3.1-C-(k)DYK
||C terminal DYKDDDDK tags
|ORF Insert Method
||CloneEZ® Seamless cloning technology
||Homo sapiens (human)
||25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial
||REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BP296031.1, AB005038.1 and
This sequence is a reference standard in the RefSeqGene project.
On Sep 2, 2005 this sequence version replaced gi:13904864.
Summary: This gene encodes a member of the cytochrome P450
superfamily of enzymes. The cytochrome P450 proteins are
monooxygenases which catalyze many reactions involved in drug
metabolism and synthesis of cholesterol, steroids and other lipids.
The protein encoded by this gene localizes to the inner
mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3
at the 1alpha position. This reaction synthesizes
1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which
binds to the vitamin D receptor and regulates calcium metabolism.
Thus this enzyme regulates the level of biologically active vitamin
D and plays an important role in calcium homeostasis. Mutations in
this gene can result in vitamin D-dependent rickets type I.
[provided by RefSeq, Jul 2008].
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
gene product(s) localized to mito. :: reported by MitoCarta
Transcript exon combination :: AB005038.1, AF020192.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
COMPLETENESS: full length.