RTN4IP1 gene

reticulon 4 interacting protein 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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, mental retardation, and seizures. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

From UniProt:

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.

From NCBI Gene:

  • Optic atrophy 10 with or without ataxia, mental retardation, and seizures

From UniProt:

Optic atrophy 10 with or without ataxia, mental retardation, 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 mental retardation and, rarely, generalized seizures. [MIM:616732]

Cytogenetic Location: 6q21, which is the long (q) arm of chromosome 6 at position 21

Molecular Location: base pairs 106,559,237 to 106,630,921 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6q21, which is the long (q) arm of chromosome 6 at position 21
  • NIMP
  • OPA10