Gene:
CYP27B1
cytochrome P450, family 27, subfamily B, polypeptide 1

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

Overview

Alternate Names:  1alpha(OH)ase; 25-Hydroxyvitamin D3 1alpha-hydroxylase; PDDR; VDD1; VDDR I
Alternate Symbols:  CYP1; P450c1
PharmGKB Accession Id: PA27099

Details

Cytogenetic Location: chr12 : q14.1 - q13.3
GP mRNA Boundary: chr12 : 58156117 - 58160976
GP Gene Boundary: chr12 : 58153117 - 58170976
Strand: minus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

PharmGKB contains no curated pathways for this gene. If you would like to volunteer to work on a pathway, please let us know.

External Pathways

Links to non-PharmGKB pathways.

  1. Vitamin D (calciferol) metabolism - (Reactome via Pathway Interaction Database)
  2. Vitamins - (Reactome via Pathway Interaction Database)

Publications related to CYP27B1: 5

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Enhancement of hepatic 4-hydroxylation of 25-hydroxyvitamin D(3) through CYP3A4 induction in vitro and in vivo: Implications for drug-induced osteomalacia. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 2012. Wang Zhican, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Human genetic variation of CYP450 superfamily: analysis of functional diversity in worldwide populations. Pharmacogenomics. 2012. Polimanti Renato, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Mutations in CYP24A1 and Idiopathic Infantile Hypercalcemia. The New England journal of medicine. 2011. Schlingmann Karl P, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic variation in CYP27B1 is associated with congestive heart failure in patients with hypertension. Pharmacogenomics. 2009. Wilke Russell A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Asthma and genes encoding components of the vitamin D pathway. Respiratory research. 2009. Bossé Yohan, et al. PubMed

LinkOuts

Entrez Gene:
1594
OMIM:
264700
609506
UCSC Genome Browser:
NM_000785
RefSeq RNA:
NM_000785
RefSeq Protein:
NP_000776
RefSeq DNA:
AC_000055
AC_000144
NC_000012
NG_007076
NT_029419
NW_001838060
NW_925395
HuGE:
CYP27B1
Comparative Toxicogenomics Database:
1594
ModBase:
O15528
HumanCyc Gene:
HS03361
HGNC:
2606

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