Source: hRBCD ; ID: IPI00002406
BGMUT ; ID: lutheran
Marked as 'Integral membrane protein'
Confidence: high (a blood group or CD marker) Search PubMed for
(RBC AND this entry)

Gene names: BCAM , LU, MSK19
Protein names and data: BCAM_HUMAN , Basal cell adhesion molecule , Auberger B antigen; B-CAM cell surface glycoprotein; F8/G253 antigen; Lutheran antigen; Lutheran blood group glycoprotein; CD239; Flags: Precursor Lenght: 628 a.a.
Mass: 67405 Da
fasta formatted sequence

Function: Laminin alpha-5 receptor. May mediate intracellular signaling.
Cellular location: Membrane; Single-pass type I membrane protein.
Tissue specificity: Wide tissue distribution (highest in the pancreas and very low in brain). Closely associated with the basal layer of cells in epithelia and the endothelium of blood vessel walls.

Genetic variants

BCAM is responsible for the Lutheran blood group system (LU) [MIM:111200]. Lutheran is a complex blood group system consisting of 19 antigens. Antigens Lu(a) and Lu(b) are defined by a polymorphism at position 77: Lu(a) has His-77 and Lu(b) has Arg- 77. Inactivating variants in BCAM are responsible for the recessive Lutheran null phenotype Lu(a-b-) of the Lutheran blood group [MIM:247420]. Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum.

Database cross-references

UniProt: P50895
Ensembl: ENST00000270233
Ensembl: ENST00000391955
MIM: 111200
MIM: 247420
MIM: 612773
neXtProt: NX_P50895
Antibodypedia: P50895 (may not find the protein thus also not any antibody)
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