RTN4IP1

Chr 6

reticulon 4 interacting protein 1

Also known as: NIMP, OPA10, Yim1

NCBI Gene: 84816 ENSG00000130347 UniProt: Q8WWV3

RTN4IP1 encodes a mitochondrial NAD(P)H oxidoreductase required for ubiquinone biosynthesis and COQ3 O-methyltransferase activity, and may regulate retinal ganglion cell neurite outgrowth. Biallelic mutations cause autosomal recessive optic atrophy 10 with or without ataxia, intellectual disability, and seizures. This gene is extremely intolerant to loss-of-function variants (pLI ~1.0), indicating that heterozygous loss-of-function mutations are likely pathogenic in the general population.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtOptic atrophy 10 with or without ataxia, impaired intellectual development, and seizures

Clinical highlights

Gene-disease validity (ClinGen)

optic atrophy 10 with or without ataxia, intellectual disability, and seizures · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (2)

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