DLX5 gene

distal-less homeobox 5

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Split-hand/foot malformation 1 with sensorineural hearing loss

From UniProt:

Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive (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. [MIM:220600]

Cytogenetic Location: 7q21.3, which is the long (q) arm of chromosome 7 at position 21.3

Molecular Location: base pairs 97,020,390 to 97,024,831 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7q21.3, which is the long (q) arm of chromosome 7 at position 21.3
  • SHFM1D