DLX5 Human Recombinant Protein

This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. [provided by RefSeq, Jul 2008]

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: Transcription factor; DNA-binding

Chromosomal Location of Human Ortholog: 7q22

Cellular Component: cytoplasm; nuclear chromatin

Biological Process: nervous system development; axon guidance; inner ear morphogenesis; transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; olfactory pit development; palate development; BMP signaling pathway; osteoblast differentiation; cell proliferation; positive regulation of osteoblast differentiation; epithelial cell differentiation; anatomical structure formation; skeletal development; positive regulation of epithelial cell proliferation; embryonic limb morphogenesis; endochondral ossification

Disease: Split-hand/foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive