Aliases for CHCHD10 Gene
External Ids for CHCHD10 Gene
Previous HGNC Symbols for CHCHD10 Gene
Previous GeneCards Identifiers for CHCHD10 Gene
This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]
GeneCards Summary for CHCHD10 Gene
CHCHD10 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 10) is a Protein Coding gene. Diseases associated with CHCHD10 include Myopathy, Isolated Mitochondrial, Autosomal Dominant and Spinal Muscular Atrophy, Jokela Type. Among its related pathways are Mitochondrial protein import and Metabolism of proteins. An important paralog of this gene is CHCHD2.
UniProtKB/Swiss-Prot Summary for CHCHD10 Gene
May be involved in the maintenance of mitochondrial organization and mitochondrial cristae structure.