DISEASES

Disease-gene associations mined from literature

Literature associating CLEC4C and Pitt-Hopkins syndrome

CLEC4C [ENSP00000440428]

C-type lectin domain family 4 member C; Lectin-type cell surface receptor which may play a role in antigen capturing by dendritic cells (PubMed:11748283, PubMed:21880719, PubMed:25995448). Specifically recognizes non-sialylated galactose- terminated biantennary glycans containing the trisaccharide epitope Gal(beta1-3/4)GlcNAc(beta1-2)Man . Binds to serum IgG . Efficiently targets ligand into antigen-processing and peptide-loading compartments for presentation to T-cells . May mediate potent inhibition of induction of IFN-alpha/beta expression in plasmacytoid dendritic cells . May act as a signaling receptor that activates protein-tyrosine kinases and mobilizes intracellular calcium .

Synonyms:  CLEC4C,  CLEC4Cp,  hCLEC4C,  H0YFH6,  H0YGB2 ...

Linkouts:  STRING  Pharos  UniProt