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. 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.