CHCHD3 coiled-coil-helix-coiled-coil-helix domain containing 3
Gene ID: 54927, updated on 19-Sep-2024Gene type: protein coding
Also known as: Mic19; MINOS3; MICOS19; PPP1R22
- See all available tests in GTR for this gene
- Go to complete Gene record for CHCHD3
- Go to Variation Viewer for CHCHD3 variants
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]
Genomic context
- Location:
- 7q32.3-q33
- Sequence:
- Chromosome: 7; NC_000007.14 (132784870..133082090, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CHCHD3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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