ERLEC1

Chr 2

endoplasmic reticulum lectin 1

Also known as: C2orf30, CIM, CL24936, CL25084, HEL117, XTP3-B, XTP3TPB

NCBI Gene: 27248 ENSG00000068912 UniProt: Q96DZ1 OMIM: 611229

The protein functions as an endoplasmic reticulum lectin that binds to misfolded proteins and participates in endoplasmic reticulum-associated degradation quality control mechanisms. Mutations cause autosomal recessive intellectual developmental disorder with seizures, hypotonia, and absent language, typically presenting in infancy. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely not tolerated.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a resident endoplasmic reticulum (ER) protein that functions in N-glycan recognition. This protein is thought to be involved in ER-associated degradation via its interaction with the membrane-associated ubiquitin ligase complex. It also functions as a regulator of multiple cellular stress-response pathways in a manner that promotes metastatic cell survival. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 21. [provided by RefSeq, Aug 2011]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.74

LOEUF

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Mechanism