重组髓鞘蛋白P0样蛋白3

MPZL3 is a 235 amino acid single-pass type I membrane protein that regulates homophilic cell-to-cell adhesion. A member of the myelin P0 protein family, MPZL3 contains one Ig-like V-type (immunoglobulin-like) domain and is expressed in brain, heart, liver and skin. The gene encoding MPZL3 maps to human chromosome 11, which comprises approximately 4% of human genomic DNA and is considered a gene and disease association dense chromosome. The chromosome 11 encoded Atm gene is important for regulation of cell cycle arrest and apoptosis following double strand DNA breaks. Atm mutation leads to the disorder known as ataxia-telangiectasia. The blood disorders Sickle cell anemia and thalassemia are caused by HBB gene mutations, while Wilms' tumors, WAGR syndrome and Denys-Drash syndrome are associated with mutations of the WT1 gene. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are also associated with defects in chromosome 11-encoded genes.