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, Autosomal Recessive and Split-Hand/Foot Malformation 1. Among its related pathways are Signaling pathways regulating pluripotency of stem cells and MECP2 and Associated Rett Syndrome. Gene Ontology (GO) annotations related to this gene include RNA polymerase II proximal promoter sequence-specific DNA binding and proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific. An important paralog of this gene is DLX3.
UniProtKB/Swiss-Prot Summary 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.