Aliases for CHCHD10 Gene
External Ids for CHCHD10 Gene
Previous Symbols 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 lower motor neuron syndrome with late-adult onset. An important paralog of this gene is CHCHD2.
UniProtKB/Swiss-Prot for CHCHD10 Gene
May be involved in the maintenance of mitochondrial organization and mitochondrial cristae structure.