DISEASES

Disease-gene associations mined from literature

Literature associating POPDC2 and autosomal recessive limb-girdle muscular dystrophy type 2X

POPDC2 [ENSP00000264231]

Popeye domain-containing protein 2; Important for the maintenance of cardiac function. Plays a regulatory function in heart rate dynamics mediated, at least in part, through cAMP-binding and, probably, by increasing cell surface expression of the potassium channel KCNK2 and enhancing current density; Belongs to the popeye family.

Synonyms:  POPDC2,  POPDC2p,  hPOPDC2,  C9J3P7,  Q9HBU9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM