Neuromuscular HOMEepAGE
neuromuscular.wustl.edu
/
A–Z

MPV17

Adult-onset

mitochondrial inner membrane protein MPV17

2p23.3
Also known as: CMT2EE, MTDPS6, SYM1
W
View full entry on WUSTL Neuromuscular
mitosyn.html#mpv17

Gene Summary

RefSeq / NCBI

This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). [provided by RefSeq, Jul 2008]

External Resources

WUSTL Neuromuscular
Washington University Disease Center
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

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