DLX5

From Wikipedia, the free encyclopedia
Distal-less homeobox 5

PDB rendering based on 2djn.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
SymbolsDLX5; SHFM1D
External IDsOMIM: 600028 MGI: 101926 HomoloGene: 3825 GeneCards: DLX5 Gene
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez174913395
EnsemblENSG00000105880ENSMUSG00000029755
UniProtP56178P70396
RefSeq (mRNA)NM_005221NM_010056
RefSeq (protein)NP_005212NP_034186
Location (UCSC)Chr 7:
96.65 – 96.65 Mb
Chr 6:
6.88 – 6.88 Mb
PubMed search

Homeobox protein DLX-5 is a protein that in humans is encoded by the DLX5 gene.[1][2]

Function

This gene encodes a member of a homeobox transcription factor gene family similar to the Drosophila distal-less (Dll) 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.[2]

Genetics

Mutations in the DLX5 gene have been shown to be involved in the hand and foot malformation syndrome.[3]

Interactions

DLX5 has been shown to interact with DLX2,[4] MSX1[4] and MSX2.[4]

References

  1. Simeone A, Acampora D, Pannese M, D'Esposito M, Stornaiuolo A, Gulisano M, Mallamaci A, Kastury K, Druck T, Huebner K, et al. (Apr 1994). "Cloning and characterization of two members of the vertebrate Dlx gene family". Proc Natl Acad Sci U S A 91 (6): 2250–4. doi:10.1073/pnas.91.6.2250. PMC 43348. PMID 7907794. 
  2. 2.0 2.1 "Entrez Gene: DLX5 distal-less homeobox 5". 
  3. Shamseldin HE, Faden MA, Alashram W, Alkuraya FS (November 2011). "Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation". J Med Genet 49 (1): 16–20. doi:10.1136/jmedgenet-2011-100556. PMID 22121204. 
  4. 4.0 4.1 4.2 Zhang H, Hu G, Wang H, Sciavolino P, Iler N, Shen MM, Abate-Shen C (May 1997). "Heterodimerization of Msx and Dlx homeoproteins results in functional antagonism". Mol. Cell. Biol. 17 (5): 2920–32. PMC 232144. PMID 9111364. 

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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