Family With Sequence Similarity 55, Member D (FAM55D)

FAM55D is a 544 amino acid secreted protein that is expressed as two isoforms due to alternative splicing events. With 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 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.