DISEASES

Disease-gene associations mined from literature

Literature associating BVES and autosomal recessive limb-girdle muscular dystrophy

BVES [ENSP00000313172]

Blood vessel epicardial substance; 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. ECO:0000250|UniProtKB:Q9ES83, ECO:0000269|PubMed:16188940,

Synonyms:  BVES,  Q8NE79,  Q8NE79p,  hQ8NE79,  11149 ...

Linkouts:  STRING  Pharos  UniProt  OMIM