Aliases for RTN4IP1 Gene
External Ids for RTN4IP1 Gene
Previous GeneCards Identifiers for RTN4IP1 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]
GeneCards Summary for RTN4IP1 Gene
RTN4IP1 (Reticulon 4 Interacting Protein 1) is a Protein Coding gene. Diseases associated with RTN4IP1 include Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures and Autosomal Recessive Isolated Optic Atrophy. GO annotations related to this gene include oxidoreductase activity and transferase activity, transferring acyl groups other than amino-acyl groups. An important paralog of this gene is TP53I3.
UniProtKB/Swiss-Prot for RTN4IP1 Gene
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.