| Primary Identifier | IPR006916 | Type | Family |
| Short Name | POPDC1-3 |
| description | This entry represents the POPDC family of proteins, also known as the Popeye (POP) family, which includes POPDC1, 2 and 3 and is mainly restricted to vertebrates. It is preferentially expressed in developing and adult striated muscle []. These proteins act as cAMP effectors [, , ]and play a role in cardiac pacemaking and conduction. The POPDC proteins have been shown to regulate potassium []and sodium channels [].POPDC1 has been associated with phenotypes including limb-girdle muscular dystrophy-25 (), cardiac arrhythmias []and changes in POPDC protein expression have been linked to many cancers [].POPDC3 may play a role in the maintenance of heart function mediated, at least in part, through cAMP-binding and it is also important for skeletal muscle function. It may play a role in the regulation of KCNK2/TREK-1-mediated current amplitude. Pathogenic variants in POPDC3 are responsible for a novel type of autosomal recessive limb girdle muscular dystrophy []. |
