RTN4IP1
Function
Plays a role in the regulation of retinal ganglion cell (RGC) neurite outgrowth, and hence in the development of the inner retina and optic nerve. Appears to be a potent inhibitor of regeneration following spinal cord injury.
Involvement in disease
Optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures
OPA10
An autosomal recessive disease characterized by progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA10 patients may also manifest mild ataxia, mild intellectual disability and, rarely, generalized seizures.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily.
Tissue Specificity
Widely expressed in mitochondria-enriched tissues. Found in heart, muscle, kidney, liver, brain and placenta.
Cellular localization
- Mitochondrion outer membrane
- Colocalizes with the endoplasmic reticulum HSPA5 at spots corresponding to contacts with mitochondria.
Alternative names
NIMP, RTN4IP1, NOGO-interacting mitochondrial protein