Background information
C11orf24, also known as DM4E3, is a 449 amino acid single-pass type I membrane protein that is expressed in brain, lung, skeletal muscle, kidney, spleen, prostate, testis, ovary and small intestine, with highest expression in heart, placenta, liver, pancreas and colon, and low expression in thymus and leukocytes. C11orf24 is encoded by a gene located on human chromosome 11, which consists of approximately 135 million base pairs and 1,400 genes. Chromosome 11 makes up around 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 β thalassemia are caused by HBB gene mutations. 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.
