CHCHD10, Official Symbol CHCHD10provided by HGNC Official Full Name coiled-coil-helix-coiled-coil-helix domain containing 10provided by HGNC Primary source HGNC:HGNC:15559 See related Ensembl:ENSG00000250479 MIM:615903; AllianceGenome:HGNC:15559 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as IMMD; SMAJ; MIX17A; FTDALS2; N27C7-4; C22orf16 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] Expression Broad expression in heart (RPKM 56.7), colon (RPKM 43.9) and 20 other tissues See more Orthologs mouse all