CLEC4D

Chr 12

C-type lectin domain family 4 member D

Also known as: CD368, CLEC-6, CLEC6, CLECSF8, Dectin-3, MCL, MPCL

NCBI Gene: 338339 ENSG00000166527 UniProt: Q8WXI8

The protein functions as a calcium-dependent pattern recognition receptor in the innate immune system, recognizing pathogen-associated molecular patterns from bacteria and fungi to activate immune responses through NF-kappa-B signaling. Biallelic mutations in this gene cause a primary immunodeficiency disorder characterized by recurrent invasive fungal infections, particularly severe candidiasis. The gene shows very low constraint against loss-of-function variants (pLI near 0), and the condition follows an autosomal recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.57

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)