DISEASES

Disease-gene associations mined from literature

Literature associating CD33 and Helsmoortel-Van Der Aa Syndrome

CD33 [ENSP00000262262]

Sialic acid-binding Ig-like lectin 3; Putative adhesion molecule of myelomonocytic-derived cells that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,6-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. In the immune response, may act as an inhibitory receptor upon ligand induced tyrosine phosphorylation by recruiting cytoplasmic phosphatase(s) via their SH2 domain(s) that block signal transduction through dephosphorylation of signaling molecules. Induces apoptosis in acute myeloid leukemia (in vitro); Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family.

Synonyms:  CD33,  CD33p,  hCD33,  B4DF51,  CD33-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM