LMAN2L gene

lectin, mannose binding 2 like

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

May be involved in the regulation of export from the endoplasmic reticulum of a subset of glycoproteins. May function as a regulator of ERGIC-53.

From NCBI Gene:

  • Mental retardation, autosomal recessive 52

From UniProt:

Mental retardation, autosomal recessive 52 (MRT52): A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT52 clinical features include global developmental delay, severe intellectual disability with poor speech, and mild seizures in early childhood. [MIM:616887]

Cytogenetic Location: 2q11.2, which is the long (q) arm of chromosome 2 at position 11.2

Molecular Location: base pairs 96,705,929 to 96,740,092 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q11.2, which is the long (q) arm of chromosome 2 at position 11.2
  • MRT52
  • VIPL