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CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10

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]

Genomic context

Location:
22q11.23
Sequence:
Chromosome: 22; NC_000022.11 (23765834..23767972, complement)
Total number of exons:
4

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