RNF170

Chr 8ADAR

ring finger protein 170

Also known as: ADSA, SNAX1, SPG85

NCBI Gene: 81790 ENSG00000120925 UniProt: Q96K19 OMIM: 614649

The protein is an E3 ubiquitin ligase located in the endoplasmic reticulum membrane that mediates ubiquitination and degradation of inositol 1,4,5-trisphosphate receptors via the ER-associated protein degradation pathway. Mutations cause autosomal dominant sensory ataxia and autosomal recessive spastic paraplegia, affecting the nervous system with sensory and motor dysfunction. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.52), and exhibits both dominant and recessive inheritance patterns depending on the specific condition.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a RING domain-containing protein that resides in the endoplasmic reticulum (ER) membrane. This protein functions as an E3 ubiquitin ligase and mediates ubiquitination and processing of inositol 1,4,5-trisphosphate (IP3) receptors via the ER-associated protein degradation pathway. It is recruited to the activated IP3 receptors by the ERLIN1/ERLIN2 complex to which it is constitutively bound. Mutations in this gene are associated with autosomal dominant sensory ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Ataxia, sensory, 1, autosomal dominantMIM #608984

Spastic paraplegia 85, autosomal recessiveMIM #619686

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.52

LOEUF

GOF

Mechanism· predicted