Disease-gene associations mined from literature

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

BVES [ENSP00000313172]

Popeye domain-containing protein 1; Cell adhesion molecule involved in the establishment and/or maintenance of cell integrity. Involved in the formation and regulation of the tight junction (TJ) paracellular permeability barrier in epithelial cells. Plays a role in VAMP3-mediated vesicular transport and recycling of different receptor molecules through its interaction with VAMP3. Plays a role in the regulation of cell shape and movement by modulating the Rho-family GTPase activity through its interaction with ARHGEF25/GEFT. Induces primordial adhesive contact and aggregation of epithelial cells in a Ca(2+)-independent manner. Also involved in striated muscle regeneration and repair and in the regulation of cell spreading (By similarity). 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. Is also a caveolae-associated protein important for the preservation of caveolae structural and functional integrity as well as for heart protection against ischemia injury.

Synonyms:  BVES,  Q8NE79,  POP1,  POPDC1,  Q8NE79p ...

Linkouts:  STRING  Pharos  UniProt  OMIM