CHCHD10
Description
The CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10) is a protein-coding gene located on chromosome 22.
CHCHD10 (Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial) is a protein encoded by the CHCHD10 gene in humans. Located on chromosome 22, it produces a 14.9 kDa protein with 149 amino acids. CHCHD10 is enriched at cristae junctions in the intermembrane space of mitochondria. Its structure includes a nonstructured N-terminal region, a hydrophobic helix, and a C-terminal CHCH domain with two disulfide bonds. This protein may play a role in maintaining cristae morphology or oxidative phosphorylation. CHCHD10-related disorders include Myopathy, isolated mitochondrial, autosomal dominant (IMMD), Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2), and Spinal muscular atrophy, Jokela type (SMAJ). FTDALS2 is a neurodegenerative disorder with high intrafamilial variation and phenotypes such as frontotemporal dementia and/or amyotrophic lateral sclerosis.
CHCHD10 is also known as C22orf16, FTDALS2, IMMD, MIX17A, N27C7-4, SMAJ.
Associated Diseases
- Autosomal dominant mitochondrial myopathy with exercise intolerance
- Myopathy, isolated mitochondrial, autosomal dominant
- Lower motor neuron syndrome with late-adult onset
- Amyotrophic lateral sclerosis
- Spinal muscular atrophy, Jokela type
- Frontotemporal dementia with motor neuron disease
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
