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Protein Page:
DLX5 (human)

Overview
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. Note: This description may include information from UniProtKB.
Protein type: DNA-binding; Transcription factor
Chromosomal Location of Human Ortholog: 7q22
Cellular Component: nuclear chromatin
Biological Process: BMP signaling pathway; cell proliferation; endochondral ossification; nervous system development; osteoblast differentiation; positive regulation of transcription, DNA-dependent; skeletal development
Disease: Split-hand/foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive
Reference #:  P56178 (UniProtKB)
Alt. Names/Synonyms: distal-less homeo box 5; distal-less homeobox 5; DLX5; Homeobox protein DLX-5
Gene Symbols: DLX5
Molecular weight: 31,540 Da
Basal Isoelectric point: 9.31  Predict pI for various phosphorylation states
Select Structure to View Below

DLX5

Protein Structure Not Found.
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