SLC25A46 Gene Summary [Human]
This gene encodes a mitochondrial solute carrier protein family member. It functions in promoting mitochondrial fission, and prevents the formation of hyperfilamentous mitochondria. Mutation of this gene results in neuropathy and optic atrophy. [provided by RefSeq, Aug 2016]
Details
| Type | Processed Transcript |
| Official Symbol | SLC25A46 |
| Official Name | solute carrier family 25 member 46 [Source:HGNC Symbol;Acc:HGNC:25198] |
| Ensembl ID | ENSG00000164209 |
| Bio databases IDs | |
| Aliases | solute carrier family 25 member 46 |
| Synonyms | 1200007B05Rik, HMSN6B, PCH1E, RGD1305072, solute carrier family 25 member 46, solute carrier family 25, member 46, TB1 |
| 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 SLC25A46 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- binding protein
- Mitochondrial carrier protein
- 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
- hereditary disorder
- hereditary motor and sensory neuropathy type VIB
- pontocerebellar hypoplasia, type 1e
- Leigh syndrome
- psoriasis
- Charcot-Marie-Tooth disease
role in cell
- expression in
- formation
- morphology
- assembly
- number
- fragmentation
- development
- organization
- oligomerization in
- fragmentation 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
- Mitochondria
- mitochondrial outer membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC25A46 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- membrane fission involved in mitochondrial fission
- cristae formation
- cerebellar Purkinje cell differentiation
- macromolecular complex assembly
- peripheral nervous system neuron axonogenesis
- phospholipid homeostasis
- respiratory chain complex IV assembly
- optic nerve development
- mitochondrial fission
- locomotion involved in locomotory behavior
- synapse assembly
- myelination in peripheral nervous system
- mitochondrial transport
- establishment of localization in cell
- dendrite development
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- mitochondrial outer membrane
Molecular Function
What the gene product does at the molecular level
- protein binding