| Modification Notes |
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. ANKRD15 (ankyrin repeat domain 15), also known as KANK1 (KN motif and ankyrin repeat domain-containing protein 1) or kidney ankyrin repeat-containing protein, is a 1,352 amino acid protein that contains at least twelve exons and five ANK repeats. Encoded by a gene that maps to human chromosome 9p24.3, ANKRD15 localizes to cytoplasm and may function as a tumor suppressor for renal cell carcinoma. ANKRD15 is ubiquitously expressed, with high expression in heart, prostate and ovary. However, ANKRD15 is not expressed in peripheral blood leukocytes. ANKRD15 defects are linked to cerebral palsy spastic quadriplegic type 2 (CPSQ2), a non-progressive disorder of movement or posture resulting from defects in the developing central nervous system. ANKRD15 deletion is also linked to parent-of-origin-dependent inheritance of familial cerebral palsy. |