DISEASES

Disease-gene associations mined from literature

Literature associating DLX5 and ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

DLX5 [ENSP00000222598]

Distal-less homeobox 5; Transcriptional factor involved in bone development. Acts as an immediate early BMP-responsive transcriptional activator essential for osteoblast differentiation. Stimulates ALPL promoter activity in a RUNX2-independent manner during osteoblast differentiation. Stimulates SP7 promoter activity during osteoblast differentiation. Promotes cell proliferation by up-regulating MYC promoter activity. Involved as a positive regulator of both chondrogenesis and chondrocyte hypertrophy in the endochondral skeleton. Binds to the homeodomain-response element of the ALPL and SP7 promoter. Binds to the MYC promoter. Requires the 5'-TAATTA-3' consensus sequence for DNA-binding; NKL subclass homeoboxes and pseudogenes

Synonyms:  DLX5,  DLX5p,  hDLX5,  B7Z4P3,  DLX5-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM