DISEASES

Disease-gene associations mined from literature

Literature associating TWIST1 and hypoplastic right heart syndrome

TWIST1 [ENSP00000242261]

Class A basic helix-loop-helix protein 38; Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction probably involves the basic domains of both proteins. Also represses expression of proinflammatory cytokines such as TNFA and IL1B. Regulates cranial suture patterning and fusion. Activates transcription as a heterodimer with E proteins. Regulates gene expression differentially, depending on dimer composition. Homodimers induce expression of FGFR2 and POSTN while heterodimers repress FGFR2 and POSTN expression and induce THBS1 expression. Heterodimerization is also required for osteoblast differentiation. Represses the activity of the circadian transcriptional activator: NPAS2-ARNTL/BMAL1 heterodimer (By similarity).

Synonyms:  TWIST1,  TWIST1p,  hTWIST1,  Q15672,  BHLHA38 ...

Linkouts:  STRING  Pharos  UniProt  OMIM