| REEP6 | |
|---|---|
| Full Name | REEP6 (Receptor Expression Enhancing Protein 6) |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 740 |
| OMIM | 609354 |
| UniProt ID | Q9H0M0 |
| Category | Mitochondrial Protein |
The REEP6 gene encodes REEP6 (Receptor Expression Enhancing Protein 6), a mitochondrial protein protein. It is involved in various cellular processes relevant to neurodegeneration.
REEP6 is a member of the REEP family of proteins that shape mitochondrial cristae. REEP6 is primarily expressed in neuronal tissues including retinal photoreceptors, cortical neurons, and hippocampal neurons. It plays crucial roles in mitochondrial morphogenesis and cristae structure, mitochondrial network maintenance, endoplasmic reticulum morphology, and supports neuronal survival under metabolic stress.
| Disease | Role in Disease |
|---|---|
| Hereditary Spastic Paraplegia (SPG71) | REEP6 mutations cause autosomal recessive HSP with optic atrophy |
| Retinitis Pigmentosa | Associated with retinal degeneration and vision loss |