Ankyrin Repeat Domain Protein 13 (ANKRD13)

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. ANKRD13A is a 590 amino acid protein that contains two Ankyrin repeats and three UIM repeats. The gene that encodes ANKRD13A maps to human chromosome 12, which encodes over 1,100 genes within 132 million bases, making up about 4.5% of the human genome. A number of skeletal deformities are linked to chromosome 12 including hypochondrogenesis, achondrogenesis and Kniest dysplasia. Noonan syndrome, which includes heart and facial developmental defects among the primary symptoms, is caused by a mutant form of PTPN11 gene product, SH-PTP2.