Gene: LOC107985577

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: CHCHD10

Alternate names for this Gene: C22orf16|FTDALS2|IMMD|MIX17A|N27C7-4|SMAJ

Gene 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.

Gene is located in Chromosome: 22

Location in Chromosome : 22q11.23

Description of this Gene: coiled-coil-helix-coiled-coil-helix domain containing 10

Type of Gene: protein-coding

rs551521196 in LOC107985577;CHCHD10 gene and FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 PMID 24934289 2014 A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.

PMID 25155093 2014 Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients.