DISEASES

Disease-gene associations mined from literature

Literature associating MEF2A and velocardiofacial syndrome

MEF2A [ENSP00000346389]

Serum response factor-like protein 1; Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle- specific genes. Also involved in the activation of numerous growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. In cerebellar granule neurons, phosphorylated and sumoylated MEF2A represses transcription of NUR77 promoting synaptic differentiation. Associates with chromatin to the ZNF16 promoter; MADS box family

Synonyms:  MEF2A,  MEF2Ap,  hMEF2A,  D6RJ95,  H0YKY6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM