Chromosome 11 open reading frame 67, CK067, FLJ21035, Hypothetical protein LOC28971, MGC3367, PTD015, UPF0366 protein C11orf67, AAMDC_HUMAN.
PTD015 is a 122 amino acid protein that belongs to the UPF0366 family. Existing as three alternatively spliced isoforms, the PTD015 gene is conserved in dog, cow, mouse, rat, chicken and zebrafish, and maps to human chromosome 11q14.1. 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. The PTD015 gene product has been provisionally designated PTD015 pending further characterization.
