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BCAM / CD239 is Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene.
Gene Name: | basal cell adhesion molecule (Lutheran blood group) |
Synonyms: | BCAM, B-cell adhesion molecule, Auberger B antigen, Basal cell adhesion molecule, CD239 antigen, Glycoprotein 95kDa, F8/G253 antigen, LU, Lutheran antigen, MSK19, AU, CD239 |
Target Sequences: | NM_005581 NP_005572.2 P50895 |
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