DISEASES

Disease-gene associations mined from literature

Literature associating MSX2 and Goldenhar syndrome

MSX2 [ENSP00000239243]

Homeobox protein MSX-2; Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antagonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by the osteocalcin FGF response element (OCFRE). Binds to the homeodomain-response element of the ALPL promoter; Belongs to the Msh homeobox family.

Synonyms:  MSX2,  MSX2p,  hMSX2,  D6RIS4,  P35548 ...

Linkouts:  STRING  Pharos  UniProt  OMIM