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GTR Home > Conditions/Phenotypes > MHC class I deficiency 3

MHC class I deficiency 3

Summary

MHC class I deficiency-3 (MHC1D3) is an autosomal recessive immunologic disorder characterized by chronic glomerulonephritis and reduced cell surface expression of class I HLA antigens (summary by Yabe et al., 2002). For a discussion of genetic heterogeneity of MHC class I deficiency, see MHC1D1 (604571). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: MHC1D3, NGS17, TAPA, TPN, TPSN, TAPBP
    Summary: TAP binding protein

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