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Center for Nephrology and Metabolic Disorders
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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 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Nephropathy with pretibial epidermolysis bullosa and deafness
CD151

References:

1.

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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2.

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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3.

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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4.

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

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5.

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

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6.

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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7.

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

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8.

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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9.

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

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10.

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

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11.

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

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12.

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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13.

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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14.

NCBI article

NCBI 977 external link
15.

OMIM.ORG article

Omim 602243 external link
16.

Orphanet article

Orphanet ID 304247 external link
17.

Wikipedia article

Wikipedia EN (CD151) external link
Update: Aug. 14, 2020
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