Gene: CHCHD3

Alternate names for this Gene: MICOS19|MINOS3|Mic19|PPP1R22

Gene Summary: The protein encoded by this gene is an inner mitochondrial membrane scaffold protein. Absence of the encoded protein affects the structural integrity of mitochondrial cristae and leads to reductions in ATP production, cell growth, and oxygen consumption. This protein is part of the mitochondrial contact site and cristae organizing system (MICOS). Several transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7q32.3-q33

Description of this Gene: coiled-coil-helix-coiled-coil-helix domain containing 3

Type of Gene: protein-coding

rs13233438 in CHCHD3 gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7806045 in CHCHD3 gene and Duration of sleep PMID 30846698 2019 Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates.

rs6467447 in CHCHD3 gene and Potassium measurement PMID 31409800 2019 GWAS for urinary sodium and potassium excretion highlights pathways shared with cardiovascular traits.