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Description

Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial (UniProt: Q8WYQ3, also known as Protein N27C7-4) is encoded by the CHCHD10 (also known as C22orf16) gene (Gene ID: 400916) in human. CHCHD10 belongs to a family of mitochondrial proteins located in the intermembrane space that is enriched at cristae junctions. CHCHD10 displays a ubiquitous distribution pattern, but its expression is highest in heart and liver and lowest in spleen. It is involved in the maintenance of mitochondrial organization, mitochondrial cristae structure, and mitochondrial DNA stability. CHCD10 has a non-structured N-terminal region, followed by a highly hydrophobic helix and a C-terminal CHCH domain characterized by a Cx(9)C motif and 2 additional cysteines. The four cysteine residues (102, 112, 122 and 132) of the CHCH domain are involved in two disulphide bonds. Overexpression of a CHCHD10 mutant allele in HeLa cells is reported to lead to fragmentation of the mitochondrial network and ultrastructural major abnormalities including loss, disorganization and dilatation of cristae. Mutations in CHCHD10 gene are reported to cause frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2). (Ref.: Bannwarth, S., et al. (2014). Brain. 2014 137(Pt 8):2329-2345).