Ankyrin Repeat Domain Protein 42 (ANKRD42)

Ankyrins are membrane adaptor molecules that play important roles in coupling integral membrane proteins to the spectrin-based cytoskeleton network. Mutations of ankyrin genes lead to severe genetic diseases such as fatal cardiac arrhythmias and hereditary spherocytosis. ANKRD42 is a 389 amino acid protein that exists as two alternatively spliced isoforms that contains nine ANK repeats. Found at highest levels in testis and sperm, ANKRD42 is ubiquitously expressed and is encoded by a gene located on human chromosome 11. Chromosome 11 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 map to chromosome 11.