DISEASES

Disease-gene associations mined from literature

Literature associating CNEP1R1 and nemaline myopathy 1

CNEP1R1 [ENSP00000405635]

Nuclear envelope phosphatase-regulatory subunit 1; Forms with the serine/threonine protein phosphatase CTDNEP1 an active complex which dephosphorylates and may activate LPIN1 and LPIN2. LPIN1 and LPIN2 are phosphatidate phosphatases that catalyze the conversion of phosphatidic acid to diacylglycerol and control the metabolism of fatty acids at different levels. May indirectly modulate the lipid composition of nuclear and/or endoplasmic reticulum membranes and be required for proper nuclear membrane morphology and/or dynamics. May also indirectly regulate the production of lipid droplets and triacylglycerol; Belongs to the CNEP1R1 family.

Synonyms:  CNEP1R1,  CNEP1R1p,  hCNEP1R1,  B8YCP3,  FLJ38101 ...

Linkouts:  STRING  Pharos  UniProt