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NCAM1

MIM.116930 11q23.1

N-CAM, CD56

 

Ig superfamily members are known to mediate cell adhesion, as:
-  NCAM1 (MIM.116930)
-  ICAM1 (MIM.147840)
-  VCAM1 (vascular cell adhesion molecule-1) (MIM.192225)

They also mediate antigen recognition:
-  immunoglobulins (IGH, IGL, IGK)
-  T-cell receptors (TCRA, TCRB, TCRD, TCRG)
-  MHC molecules.

In addition, a subgroup comprising 30 members characterized by the presence of one or more immunoreceptor tyrosine-based inhibitory motifs (ITIMs) within their cytoplasmic domain has also been recognized. PECAM1, which has 6 ITIMs within its cytoplasmic domain, is a member of this subfamily;

Another subfamily is the carcinoembryonic antigen gene family (CEA gene family).

Functions

-  N-CAM regulates homophilic (like-like) interactions between neurons and between neurons and muscle.

-  CD56 also associates with fibroblast growth factor receptor (FGFR) and stimulates tyrosine kinase activity of receptor to induce neurite outgrowth.

-  When neural crest cells stop making N-CAM and N-cadherin and start displaying integrin receptors, cells separate and migrate.

-  CD56 contributes to cell-cell or cell-matrix adhesion during development

-  Lymphocyte activated killer phenomenon mediated by IL-2 activated CD56+, CD3-, NK cells

Expression in normal cells

-  NK cells (80-90%)
-  activated T cells
-  cerebellum and brain at neuromuscular junctions
-  normal neuroendocrine tissues
-  bile ducts and biliary ductules (#14576479#)

Expression in tumors

-  myeloma
-  myeloid leukemias
-  neuroendocrine tumors
-  Wilm tumor
-  adult neuroblastoma
-  NK/T cell lymphomas
-  pancreatic acinar cell carcinoma
-  pheochromocytoma
-  small cell lung carcinoma



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