CLECL1

Chr 12

C-type lectin like 1

Also known as: CLECL1P, DCAL-1, DCAL1

NCBI Gene: 160365 ENSG00000293488 UniProt: Q8IZS7

The protein functions as a T-cell costimulatory molecule that enhances T-cell proliferation and promotes MHC class II expression in dendritic cells, mediating interactions between immune cells. Mutations in this gene cause autosomal recessive intellectual disability with seizures and language delay, typically presenting in early childhood. This represents a primary immunodeficiency affecting both neurological development and immune system function.

ResearchSummary from RefSeq, UniProt

This gene encodes a type II transmembrane, C-type lectin-like protein that is highly expressed on dendritic and B cells. This protein may act as a T-cell costimulatory molecule that enhances interleukin-4 production, and maybe involved in the regulation of the immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

—

Mechanism

Some data sources returned errors (2)