CHCHD10 Gene Summary [Human]
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. [provided by RefSeq, Aug 2014]
Details
| Type | Protein Coding |
| Official Symbol | CHCHD10 |
| Official Name | coiled-coil-helix-coiled-coil-helix domain containing 10 [Source:HGNC Symbol;Acc:HGNC:15559] |
| Ensembl ID | ENSG00000250479 |
| Bio databases IDs | |
| Aliases | coiled-coil-helix-coiled-coil-helix domain containing 10, MIX17 homolog A |
| Synonyms | 1620401E04Rik, C22orf16, coiled-coil-helix-coiled-coil-helix domain containing 10, FTDALS2, IMMD, LOC103694872, MIX17A, N27C7-4, Ndg2, SMAJ, XIG6 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CHCHD10 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- CHCH domain
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- frontotemporal dementia and/or amyotrophic lateral sclerosis type 2
- autosomal dominant isolated mitochondrial myopathy
- Jokela type spinal muscular atrophy
- mitochondrial disorder
- familial myopathy and cardiomyopathy
- TARDBP -related frontotemporal dementia with TDP43 inclusions
role in cell
- production in
- expression in
- activation in
- fragmentation
- phosphorylation in
- binding in
- molecular cleavage in
- fusion
- integrated stress response in
- consumption in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- Mitochondria
- mitochondrial intermembrane space
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CHCHD10 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- oxidative phosphorylation
- macromolecular complex assembly
- mitochondrial nucleoid organization
- mitochondria-nucleus signaling pathway
- stabilization of membrane potential
- mitochondrion organization
- maintenance of protein location in nucleus
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitochondrial intermembrane space
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- protein binding