Potassium Channel Tetramerisation Domain Containing Protein 14 (KCTD14)

The BTB domain, is an N-terminal homodimerization domain that contains multiple copies of kelch repeats and/or C2H2-type zinc fingers. Proteins that contain BTB domains are thought to be involved in transcriptional regulation via control of chromatin structure and function. KCTD14 is a 255 amino acid protein that contains one BTB (POZ) domain. KCTD14 is encoded by a gene located on human chromosome 11, which houses over 1,400 genes and comprises nearly 4% of the human genome. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are associated with defects in genes that maps to chromosome 11.