LMAN2L Chromosome 2
Lectin, mannose binding 2 like
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What This Gene Does
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]
Associated Conditions (4)
Intellectual disability
autosomal recessive 52
Intellectual developmental disorder
autosomal dominant 69
Key Variants
RS773649192
Likely pathogenic
Intellectual disability, autosomal recessive 52, Intellectual disability
Health Risk
RS2077803067
Pathogenic
Intellectual developmental disorder, autosomal dominant 69, Intellectual developmental disorder
Health Risk
RS869320632
Pathogenic
Intellectual disability, autosomal recessive 52, Intellectual disability
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS773649192 | Health Risk | Likely pathogenic | Intellectual disability, autosomal recessive 52, Intellectual disability |
| RS2077803067 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal dominant 69, Intellectual developmental disorder |
| RS869320632 | Health Risk | Pathogenic | Intellectual disability, autosomal recessive 52, Intellectual disability |