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CYP27B1

CYP27B1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the CYP27B1 gene?

The official name of this gene is “cytochrome P450, family 27, subfamily B, polypeptide 1.”

CYP27B1 is the gene's official symbol. The CYP27B1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the CYP27B1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Catalyzes the conversion of 25-hydroxyvitamin D3 (25(OH)D) to 1-alpha,25-dihydroxyvitamin D3 (1,25(OH)2D) plays an important role in normal bone growth, calcium metabolism, and tissue differentiation.

How are changes in the CYP27B1 gene related to health conditions?

Genetics Home Reference provides information about multiple sclerosis, which is associated with changes in the CYP27B1 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the CYP27B1 gene's known or predicted involvement in human disease.

Rickets vitamin D-dependent 1A (VDDR1A): A disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets.[1]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the CYP27B1 gene.
  • Vitamin D-dependent rickets, type 1[1]This link leads to a site outside Genetics Home Reference.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]

Where is the CYP27B1 gene located?

Cytogenetic Location: 12q14.1

Molecular Location on chromosome 12: base pairs 57,762,333 to 57,767,192

The CYP27B1 gene is located on the long (q) arm of chromosome 12 at position 14.1.

The CYP27B1 gene is located on the long (q) arm of chromosome 12 at position 14.1.

More precisely, the CYP27B1 gene is located from base pair 57,762,333 to base pair 57,767,192 on chromosome 12.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about CYP27B1?

You and your healthcare professional may find the following resources about CYP27B1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the CYP27B1 gene or gene products?

  • CP2B
  • CYP1
  • CYP1alpha
  • CYP27B
  • P450c1
  • PDDR
  • VDD1
  • VDDR
  • VDDRI
  • VDR

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding CYP27B1?

bone mineralization ; calcium ; cholesterol ; cytochrome P450 ; deficiency ; differentiation ; enzyme ; gene ; homeostasis ; metabolism ; OH ; protein ; receptor ; rickets ; steroids ; synthesis ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: April 21, 2014