CHCHD10

CHCHD10, whose full official name is coiled-coil-helix-coiled-coil-helix domain containing 10, is a gene found in Humans encoding 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. CHCHD10-related disorders include mitochondrial myopathy,[1] amyotrophic lateral sclerosis (ALS),[2] frontotemporal dementia (FTD),[2] late-onset spinal motor neuronopathy (SMAJ), and cerebellar ataxia. Alternative splicing of this gene results in multiple transcript variants.

References

  1. ↑ Ajroud-Driss, Senda; Fecto, Faisal (6 September 2014). "Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy". Neurogenetics. 16 (1): 1–9. doi:10.1007/s10048-014-0421-1. Retrieved 10 November 2015.
  2. 1 2 Bannwarth, Sylvie; Ait-El-Mkadem, Samira (16 June 2014). "A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement". Brain. 137: 2329–2345. doi:10.1093/brain/awu138. Retrieved 10 November 2015.

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