Disease-gene associations mined from literature

Literature associating NHLRC1 and neonatal period electroclinical syndrome

NHLRC1 [ENSP00000345464]

NHL repeat containing E3 ubiquitin protein ligase 1; E3 ubiquitin-protein ligase. Together with the phosphatase EPM2A/laforin, appears to be involved in the clearance of toxic polyglucosan and protein aggregates via multiple pathways. In complex with EPM2A/laforin and HSP70, suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Ubiquitinates the glycogen-targeting protein phosphatase subunits PPP1R3C/PTG and PPP1R3D in a laforin-dependent manner and targets them for proteasome-dependent degradation, thus decreasing glycogen accumulation. Polyubiquitinates EPM2A/laforin and ubiquitinates AGL and targets them for proteasome-dependent degradation. Also promotes proteasome-independent protein degradation through the macroautophagy pathway; Ring finger proteins

Synonyms:  NHLRC1,  NHLRC1p,  hNHLRC1,  Q6VVB1,  EPM2B ...

Linkouts:  STRING  Pharos  UniProt  OMIM