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DLX3

From Wikipedia, the free encyclopedia
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; OMA:DLX3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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

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

Function

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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

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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000064195Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000001510Ensembl, 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. ^ a b c "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

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