LMAN2L

Chr 2

lectin, mannose binding 2 like

Also known as: MRD69, MRT52, VIPL

NCBI Gene: 81562 ENSG00000114988 UniProt: Q9H0V9

The protein functions as a non-cycling endoplasmic reticulum resident cargo receptor that regulates the export of glycoproteins from the ER to the Golgi apparatus and directs misfolded glycoproteins to the ubiquitin-proteasome pathway for degradation. Mutations cause intellectual developmental disorder with both autosomal dominant and autosomal recessive inheritance patterns reported. The gene shows relatively low constraint against loss-of-function variants (LOEUF 1.295), suggesting some tolerance to functional disruption.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein belonging to the L-type lectin group of type 1 membrane proteins, which function in the mammalian early secretory pathway. These proteins contain luminal carbohydrate recognition domains, which display homology to leguminous lectins. Unlike other proteins of the group, which cycle in the early secretory pathway and are predominantly associated with post endoplasmic reticulum membranes, the protein encoded by this gene is a non-cycling resident protein of the ER, where it functions as a cargo receptor for glycoproteins. It is proposed to regulate exchange of folded proteins for transport to the Golgi and exchange of misfolded glycoproteins for transport to the ubiquitin-proteasome pathway. [provided by RefSeq, Apr 2016]

ResearchGenerating clinical summary…