Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

CD151 antigen(Raph blood group)

The CD151 gene encodes a transmembranous cell surface protein. Mutations are responsible for autosomal recessive nephropathy with pretibial epidermolysis bullosa and deafness, a disorder that resembles Alport-Syndrome.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Nephropathy with pretibial epidermolysis bullosa and deafness
CD151

References:

1.

Sterk LM et al. (2000) The tetraspan molecule CD151, a novel constituent of hemidesmosomes, associates with the integrin alpha6beta4 and may regulate the spatial organization of hemidesmosomes.

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2.

Whittock NV et al. (2001) Genomic organization, amplification, fine mapping, and intragenic polymorphisms of the human hemidesmosomal tetraspanin CD151 gene.

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3.

Wright MD et al. (2004) Characterization of mice lacking the tetraspanin superfamily member CD151.

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4.

Lau LM et al. (2004) The tetraspanin superfamily member CD151 regulates outside-in integrin alphaIIbbeta3 signaling and platelet function.

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5.

Karamatic Crew V et al. (2004) CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin.

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6.

Karamatic Crew V et al. (2008) Two MER2-negative individuals with the same novel CD151 mutation and evidence for clinical significance of anti-MER2.

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7.

Ashman LK et al. (1991) The murine monoclonal antibody, 14A2.H1, identifies a novel platelet surface antigen.

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8.

Bill J et al. (1987) Molecular cloning of MER-2, a human chromosome-11-encoded red blood cell antigen, using linkage of cotransfected markers.

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9.

Kagan A et al. (1988) Occurrence of hereditary nephritis, pretibial epidermolysis bullosa and beta-thalassemia minor in two siblings with end-stage renal disease.

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10.

Daniels GL et al. (1987) MER2: a red cell polymorphism defined by monoclonal antibodies.

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11.

Fitter S et al. (1995) Molecular cloning of cDNA encoding a novel platelet-endothelial cell tetra-span antigen, PETA-3.

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12.

Hasegawa H et al. (1996) SFA-1, a novel cellular gene induced by human T-cell leukemia virus type 1, is a member of the transmembrane 4 superfamily.

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13.

Hasegawa H et al. (1997) Assignment of SFA-1 (PETA-3), a member of the transmembrane 4 superfamily, to human chromosome 11p15.5 by fluorescence in situ hybridization.

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Update: Sept. 26, 2018