Gene Symbol | CHCHD10 |
Entrez Gene ID | 400916 |
Full Name | coiled-coil-helix-coiled-coil-helix domain containing 10 |
Synonyms | C22orf16,FTDALS2,IMMD,N27C7-4,SMAJ |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 (3); ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 (3); Spinal muscular atrophy, Jokela type, 615048 (3) |