CLEC4D
Description
The CLEC4D (C-type lectin domain family 4 member D) is a protein-coding gene located on chromosome 12.
CLEC4D is a calcium-dependent lectin that acts as a pattern recognition receptor (PRR) of the innate immune system. It recognizes damage-associated molecular patterns (DAMPs) and pathogen-associated molecular patterns (PAMPs) of bacteria and fungi, including alpha-mannans on C.albicans hypheas and mycobacterial trehalose 6,6'-dimycolate (TDM). CLEC4D interacts with the signaling adapter Fc receptor gamma chain/FCER1G, likely via CLEC4E, to form a functional complex in myeloid cells. Binding of mycobacterial TDM or C.albicans alpha-mannans to this receptor complex leads to phosphorylation of the immunoreceptor tyrosine-based activation motif (ITAM) of FCER1G, triggering activation of SYK, CARD9 and NF-kappa-B. This ultimately drives maturation of antigen-presenting cells and shapes antigen-specific priming of T-cells toward effector T-helper 1 and T-helper 17 cell subtypes. The heterodimer formed with CLEC6A is active against fungal infection. CLEC4D functions as an endocytic receptor and may be involved in antigen uptake at the site of infection, either for clearance of the antigen, or for processing and further presentation to T-cells.
CLEC4D is also known as CD368, CLEC-6, CLEC6, CLECSF8, Dectin-3, MCL, MPCL.
Associated Diseases
- isolated agammaglobulinemia
- common variable immunodeficiency
- severe combined immunodeficiency due to CTPS1 deficiency
- immunodeficiency 62
- immunodeficiency 18
- severe combined immunodeficiency due to CARD11 deficiency
- hyper-IgE recurrent infection syndrome 5, autosomal recessive
- severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
- combined immunodeficiency due to ZAP70 deficiency
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- immunodeficiency 72 with autoinflammation
- immunodeficiency, common variable, 4
- combined immunodeficiency due to DOCK8 deficiency
- severe combined immunodeficiency due to LAT deficiency
- severe combined immunodeficiency due to DCLRE1C deficiency
