Gene:
IDH1
isocitrate dehydrogenase 1 (NADP+), soluble

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:  None
Alternate Symbols:  None
PharmGKB Accession Id: PA29630

Details

Cytogenetic Location: chr2 : q33.3 - q34
GP mRNA Boundary: chr2 : 209100953 - 209119806
GP Gene Boundary: chr2 : 209097953 - 209129806
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. Alpha-oxidation of phytanate - (Reactome via Pathway Interaction Database)
  2. NADPH regeneration - (Reactome via Pathway Interaction Database)

Publications related to IDH1: 4

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Recurring mutations found by sequencing an acute myeloid leukemia genome. The New England journal of medicine. 2009. Mardis Elaine R, 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
Glioma-derived mutations in IDH1 dominantly inhibit IDH1 catalytic activity and induce HIF-1alpha. Science (New York, N.Y.). 2009. Zhao Shimin, 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
IDH1 and IDH2 mutations in gliomas. The New England journal of medicine. 2009. Yan Hai, 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
An integrated genomic analysis of human glioblastoma multiforme. Science (New York, N.Y.). 2008. Parsons D Williams, et al. PubMed

LinkOuts

Entrez Gene:
3417
OMIM:
147700
UCSC Genome Browser:
NM_005896
RefSeq RNA:
NM_005896
RefSeq Protein:
NP_005887
RefSeq DNA:
AC_000045
AC_000134
NC_000002
NG_023319
NT_005403
NW_001838863
NW_921618
UniProtKB:
IDHC_HUMAN (O75874)
Q6FHQ6_HUMAN (Q6FHQ6)
Ensembl:
ENSG00000138413
GenAtlas:
IDH1
GeneCard:
IDH1
MutDB:
IDH1
ALFRED:
LO081310N
HuGE:
IDH1
Comparative Toxicogenomics Database:
3417
ModBase:
O75874
HumanCyc Gene:
HS06502
HGNC:
5382

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