Aliases for DLX5 Gene
External Ids for DLX5 Gene
Previous GeneCards Identifiers for DLX5 Gene
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]
GeneCards Summary for DLX5 Gene
DLX5 (Distal-Less Homeobox 5) is a Protein Coding gene. Diseases associated with DLX5 include split-hand/foot malformation 1 with sensorineural hearing loss and split hand - split foot - deafness. Among its related pathways are Neural Crest Differentiation. GO annotations related to this gene include transcription regulatory region DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is LBX2.
UniProtKB/Swiss-Prot for DLX5 Gene
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.