DLX5: 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. Defects in DLX5 are the cause of split-hand/foot malformation type 1, with sensorineural hearing loss (SHFM1D). A disease characterized by the association of split- hand/foot malformation with deafness. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. Belongs to the distal-less homeobox family.
Protein type: DNA-binding; Transcription factor
Cellular Component: nuclear chromatin; cytoplasm; nucleus
Molecular Function: protein binding; DNA binding; sequence-specific DNA binding
Biological Process: transcription from RNA polymerase II promoter; axon guidance; ossification; inner ear morphogenesis; transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; multicellular organismal development; olfactory pit development; ear development; palate development; BMP signaling pathway; osteoblast differentiation; cell proliferation; positive regulation of osteoblast differentiation; regulation of transcription, DNA-dependent; epithelial cell differentiation; axonogenesis; anatomical structure formation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of epithelial cell proliferation; endochondral ossification; embryonic limb morphogenesis
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