SIGLEC6
Description
The SIGLEC6 (sialic acid binding Ig like lectin 6) is a protein-coding gene located on chromosome 19.
Siglec-6 is a protein encoded by the SIGLEC6 gene. It was initially named CD33L due to its similarity to CD33, then OB-BP1 for its ability to bind to leptin, and finally SIGLEC6 as the sixth member of the SIGLEC family. It also has the CD designation CD327. Siglec-6 was first found in placental tissue and was confirmed in a screen for leptin-binding proteins. A monoclonal antibody against Siglec-6 showed its expression on placental cytotrophoblasts, syncytiotrophoblasts, and several human hematopoietic cell lines. It was also found on nearly all human peripheral blood B cells, although this has not been replicated in recent studies. Siglec-6 is highly expressed on human mast cells, including primary CD34+ progenitor cell-derived mast cells and the LAD2 cell line. This expression was found in mast cells from various tissues like adipose, skin, lung, and colon, but not on any peripheral blood leukocytes. Siglec-6 expression on human mast cells has been confirmed in skin and the mast cell lines HMC-1.2, LUVA, ROSA KITWT, and ROSA KITD816V, regardless of KIT mutation status, even when Siglec-8 expression is lost.
Siglec-6 is a cell adhesion molecule that binds to alpha-2,6-linked sialic acids on other cells. This binding is dependent on the presence of sialic acids and may be blocked by interactions with sialic acids on the same cell surface.
SIGLEC6 is also known as CD327, CD33L, CD33L1, CD33L2, CDW327, OBBP1.
Associated Diseases
- prostate cancer
- isolated agammaglobulinemia
- common variable immunodeficiency
- immunodeficiency, common variable, 4
- hemoglobin E-beta-thalassemia syndrome
- severe combined immunodeficiency due to CARD11 deficiency
- combined immunodeficiency due to ZAP70 deficiency
- eosinophil peroxidase deficiency
- primary familial polycythemia due to EPO receptor mutation
- immunodeficiency 62
- immunodeficiency 53
- immunodeficiency 18