Aliases for CHCHD3 Gene
External Ids for CHCHD3 Gene
Previous GeneCards Identifiers for CHCHD3 Gene
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. [provided by RefSeq, Nov 2015]
GeneCards Summary for CHCHD3 Gene
CHCHD3 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 3) is a Protein Coding gene. Among its related pathways are Mitochondrial protein import and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include phosphatase binding and DNA-binding transcription repressor activity, RNA polymerase II-specific. An important paralog of this gene is CHCHD6.
UniProtKB/Swiss-Prot Summary for CHCHD3 Gene
Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Has also been shown to function as a transcription factor which binds to the BAG1 promoter and represses BAG1 transcription. Plays an important role in the maintenance of the MICOS complex stability and the mitochondrial cristae morphology (PubMed:25781180).