NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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: nuclear chromatin; cytoplasm
Biological Process: axon guidance; nervous system development; inner ear morphogenesis; transcription, DNA-dependent; positive regulation of transcription, DNA-dependent; olfactory pit development; palate development; osteoblast differentiation; BMP signaling pathway; positive regulation of osteoblast differentiation; cell proliferation; 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
Research Articles on DLX5
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Product Notes
The Rabbit DLX5 dlx5 (Catalog #AAA755590) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA755590 ELISA Kit recognizes Rabbit DLX5. It is sometimes possible for the material contained within the vial of "Distal less Homeobox 5, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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