形式 |
This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. During maturation of the cornified layers, the protein undergoes a series of cleavages, which are thought to be required for desquamation. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6.
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復(fù)溶 |
Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. Oji V, et al. Am J Hum Genet, 2010 Aug 13. PMID 20691404.A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin. Caubet C, et al. FASEB J, 2010 Sep. PMID 20448140.Common genetic variation and the control of HIV-1 in humans. Fellay J, et al. PLoS Genet, 2009 Dec. PMID 20041166.High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. Barcellos LF, et al. PLoS Genet, 2009 Oct. PMID 19851445.Fine mapping of the psoriasis susceptibility locus PSORS1 supports HLA-C as the susceptibility gene in the Han Chinese population. Fan X, et al. PLoS Genet, 2008 Mar 21. PMID 18369457.
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