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COQ7

coenzyme Q7, hydroxylase

16p12.3MitochondrialAutosomal RecessiveAutosomal DominantVariableOMIM 615567
Also known as: CAT5, COQ10D8, HMNR9
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Gene Summary

RefSeq / NCBI

The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]

Associated Conditions

Coenzyme Q10 Deficiency
MitochondrialAutosomal RecessiveSporadicSystemic/Multisystem

External Resources

WUSTL Neuromuscular
Washington University Disease Center
OMIM
Online Mendelian Inheritance in Man
ClinGen
Clinical Genome Resource
G2P
Gene-to-Phenotype (EBI)
GeneReviews
NCBI Expert-Authored Reviews
NCBI Gene
National Center for Biotechnology Information
PubMed
Biomedical Literature
UniProt
Universal Protein Resource
DECIPHER
DatabasE of genomiC varIation and Phenotype in Humans

Related Genes

COQ2coenzyme Q2, polyprenyltransferaseSCN4ASodium Voltage-Gated Channel Alpha Subunit 4

Gene data compiled from the Washington University Neuromuscular Disease Center, NCBI Gene, and OMIM. For clinical use, always refer to primary sources.