Disease-gene associations mined from literature

Literature associating MESP1 and congenital myasthenic syndrome 12

MESP1 [ENSP00000300057]

Mesoderm posterior basic helix-loop-helix transcription factor 1; Transcription factor. Plays a role in the epithelialization of somitic mesoderm and in the development of cardiac mesoderm. Defines the rostrocaudal patterning of the somites by participating in distinct Notch pathways (By similarity); Basic helix-loop-helix proteins

Synonyms:  MESP1,  MESP1p,  hMESP1,  Q9BRJ9,  Q9NSF0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM