LMAN2L

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.