RTN4IP1

This gene encodes a mitochondrial protein that interacts with reticulon 4, which is a potent inhibitor of regeneration following spinal cord injury. This interaction may be important for reticulon-induced inhibition of neurite growth. Mutations in this gene can cause optic atrophy 10, with or without ataxia, cognitive disability, and seizures. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Full Name

Reticulon 4 Interacting Protein 1

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.

Biological Process

Biological Process nervous system developmentIEA:UniProtKB-KW
Biological Process regulation of dendrite developmentISS:UniProtKB

Cellular Location

Mitochondrion outer membrane
Colocalizes with the endoplasmic reticulum HSPA5 at spots corresponding to contacts with mitochondria.

Involvement in disease

Optic atrophy 10 with or without ataxia, intellectual disability, 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.