CNEP1R1

Chr 16

CTD nuclear envelope phosphatase 1 regulatory subunit 1

Also known as: C16orf69, NEP1-R1, NEP1R1, TMEM188, TMP125

NCBI Gene: 255919 ENSG00000205423 UniProt: Q8N9A8

This gene encodes a transmembrane protein that forms an active complex with CTDNEP1 to dephosphorylate LPIN1 and LPIN2, thereby regulating fatty acid metabolism, nuclear membrane morphology, and lipid droplet production. Mutations cause autosomal recessive congenital muscular dystrophy with intellectual disability, a condition involving both muscle and neurological systems. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.67), suggesting haploinsufficiency may contribute to disease severity.

ResearchSummary from RefSeq, UniProt

This gene encodes a transmembrane protein that belongs to the Tmemb_18A family. A similar protein in yeast is a component of an endoplasmic reticulum-associated protein phosphatase complex and is thought to play a role in the synthesis of triacylglycerol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

ResearchGenerating clinical summary…

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)

—

P/LP submissions

—

P/LP missense

0.67

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429