| Gene Symbol | REEP1 |
| Aliases | REEP1PROTEIN |
| Function | is an important component in the neurobiology of neurodegenerative diseases. |
| Subcellular Localization | </td><td>Mitochondria, ER</td></tr> |
| Molecular Weight | 22 kDa |
| Amino Acids | 199 aa |
| Pathways | PI3K/Akt pathway |
| Ensembl ID | ENSG00000068615 |
| GeneCards | REEP1 |
| Human Protein Atlas | REEP1 |
| HPF Domain (Haplophore Domain) | Located at the N-terminus, this domain is involved in mitochondrial cristae shaping and forms the characteristic cristae junctions |
| Microtubule-Binding Region | Interacts with microtubule-based transport machinery for axonal mitochondrial trafficking |
| Transmembrane Domains | Two hydrophobic alpha-helices (TM1 and TM2) that anchor the protein in the mitochondrial inner membrane |
| C-terminal Domain | Involved in protein-protein interactions and oligomerization |
| Pathogenesis | Mutations disrupt mitochondrial cristae structure, leading to impaired axonal mitochondrial transport |
| Associated Diseases | muscular_dystrophy, white_matter_damage |
| KG Connections | 4 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
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