DLX3

Homeobox protein DLX-3 is a protein that in humans is encoded by the DLX3 gene.[5][6]

DLX3
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesDLX3, AI4, TDO, AV237891, Dlx-3, distal-less homeobox 3
External IDsOMIM: 600525 MGI: 94903 HomoloGene: 74544 GeneCards: DLX3
Orthologs
SpeciesHumanMouse
Entrez

1747

13393

Ensembl

ENSG00000064195

ENSMUSG00000001510

UniProt

O60479

Q64205

RefSeq (mRNA)

NM_005220

NM_010055

RefSeq (protein)

NP_005211

NP_034185

Location (UCSC)Chr 17: 49.99 – 50 MbChr 11: 95.01 – 95.02 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

Dlx3 is a crucial regulator of hair follicle differentiation and cycling. Dlx3 transcription is mediated through Wnt, and colocalization of Dlx3 with phospho-SMAD1/5/8 is involved in the regulation of transcription by BMP signaling.[7] Dlx3 transcription is also induced by BMP-2 through transactivation with SMAD1 and SMAD4.[8]

Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 17.[6]

Clinical significance

Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome (TDO) and amelogenesis imperfecta with taurodontism.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000064195 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000001510 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Scherer SW, Heng HH, Robinson GW, Mahon KA, Evans JP, Tsui LC (Aug 1995). "Assignment of the human homolog of mouse Dlx3 to chromosome 17q21.3-q22 by analysis of somatic cell hybrids and fluorescence in situ hybridization". Mamm Genome. 6 (4): 310–1. doi:10.1007/BF00352432. PMID 7613049. S2CID 3088522.
  6. "Entrez Gene: DLX3 distal-less homeobox 3".
  7. Hwang J, Mehrani T, Millar SE, Morasso MI (September 2008). "Dlx3 is a crucial regulator of hair follicle differentiation and cycling". Development. 135 (18): 3149–59. doi:10.1242/dev.022202. PMC 2707782. PMID 18684741.
  8. Park GT, Morasso MI (January 2002). "Bone morphogenetic protein-2 (BMP-2) transactivates Dlx3 through Smad1 and Smad4: alternative mode for Dlx3 induction in mouse keratinocytes". Nucleic Acids Res. 30 (2): 515–22. doi:10.1093/nar/30.2.515. PMC 99823. PMID 11788714.

Further reading

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


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