NEMF

Chr 14AR

nuclear export mediator factor

Also known as: IDDSAPN, NY-CO-1, RQC2, SDCCAG1

NCBI Gene: 9147 ENSG00000165525 UniProt: O60524 OMIM: 608378

The protein is a key component of the ribosome quality control complex that recognizes stalled ribosomes and facilitates the extraction and degradation of incompletely synthesized protein chains to prevent cellular toxicity. Biallelic mutations cause autosomal recessive intellectual developmental disorder with speech delay and axonal peripheral neuropathy. The gene is highly constrained against loss-of-function variants (LOEUF 0.415), indicating intolerance to protein disruption.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a component of the ribosome quality control complex. The encoded protein facilitates the recognition and ubiquitination of stalled 60S subunits by the ubiquitin ligase listerin. A similar protein in fly functions as a tumor suppressor. [provided by RefSeq, Jul 2016]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder with speech delay and axonal peripheral neuropathyMIM #619099

Clinical highlights

Gene-disease validity (ClinGen)

intellectual developmental disorder with speech delay and axonal peripheral neuropathy · ARStrongappropriate for clinical testing

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

0.41

LOEUF

Mechanism· predicted