DISEASES

Disease-gene associations mined from literature

Literature associating ERC2 and dilated cardiomyopathy 1P

ERC2 [ENSP00000288221]

ELKS/RAB6-interacting/CAST family member 2; Thought to be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. Seems to act together with BSN. May recruit liprin-alpha proteins to the CAZ.

Synonyms:  ERC2,  ERC2p,  hERC2,  O15083,  KIAA0378 ...

Linkouts:  STRING  Pharos  UniProt