CHCHD3
coiled-coil-helix-coiled-coil-helix domain containing 3
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. [provided by RefSeq, Nov 2015]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11553633 | 7:132,481,261 | G/T | — | uncertain significance |
| rs747561997 | 7:132,481,280 | G/A | — | uncertain significance |
| rs7795435 | 7:132,559,104 | G/A | — | — |
| rs746224115 | 7:132,570,427 | C/T | — | uncertain significance |
| rs200873719 | 7:132,570,480 | C/T | — | uncertain significance |
| rs77283305 | 7:132,593,831 | G/T | — | — |
| rs10954400 | 7:132,655,723 | A/C | — | — |
| rs201557228 | 7:132,659,940 | C/T | — | uncertain significance |
| rs558477829 | 7:132,659,948 | C/T | — | uncertain significance |
| rs148121452 | 7:132,660,039 | G/C | — | uncertain significance |
| rs7799141 | 7:132,660,489 | A/G | intron variant | — |
| rs4731925 | 7:132,664,757 | C/T | intron variant | — |
| rs1421304 | 7:132,675,366 | C/T | intron variant | — |
| rs10230652 | 7:132,697,829 | T/C | intron variant | — |
| rs141904142 | 7:132,709,319 | C/T | — | uncertain significance |
| rs12707076 | 7:132,729,814 | G/C | regulatory region variant | — |
| rs770565570 | 7:132,754,952 | G/A | — | uncertain significance |
| rs953388125 | 7:132,754,967 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.