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DLL3

From Wikipedia, the free encyclopedia
DLL3
Identifiers
AliasesDLL3, SCDO1, pu, pudgy, delta like canonical Notch ligand 3
External IDsOMIM: 602768; MGI: 1096877; HomoloGene: 7291; GeneCards: DLL3; OMA:DLL3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_016941
NM_203486

NM_007866

RefSeq (protein)

NP_058637
NP_982353

NP_031892

Location (UCSC)Chr 19: 39.5 – 39.51 MbChr 7: 27.99 – 28 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Delta-like 3 (Drosophila), also known as DLL3, is a protein which in humans is encoded by the DLL3 gene.[5] Two transcript variants encoding distinct isoforms have been identified for this gene.

Function

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This gene encodes a member of the delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain.[6] Expression of DLL3 is highest in fetal brain. It plays a key role in somitogenesis within the paraxial mesoderm.[7]

Clinical significance

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Mutations in this gene cause the autosomal recessive genetic disorder Jarcho-Levin syndrome.[8] Expression of the gene occurs in Neuroendocrine tumors, which has been targeted as a potential pathway for treatment.[9]

Experimental drugs targetting DLL3 have been investigated as a possible treatment for lung cancer including Tarlatamab and rovalpituzumab tesirine.[10]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000090932Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000003436Ensembl, 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. ^ Turnpenny PD, Bulman MP, Frayling TM, Abu-Nasra TK, Garrett C, Hattersley AT, Ellard S (July 1999). "A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3". Am. J. Hum. Genet. 65 (1): 175–82. doi:10.1086/302464. PMC 1378088. PMID 10364530.
  6. ^ "DLL3 delta like canonical Notch ligand 3 [ Homo sapiens (human) ]".
  7. ^ Chapman G, Sparrow DB, Kremmer E, Dunwoodie SL (March 2011). "Notch inhibition by the ligand Delta-Like 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis". Human Molecular Genetics. 20 (5): 438–41. doi:10.1093/hmg/ddq529. PMID 21147753.
  8. ^ Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD (April 2000). "Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis". Nat. Genet. 24 (4): 438–41. doi:10.1038/74307. PMID 10742114. S2CID 9284439.
  9. ^ Saunders LR, Bankovich AJ, Anderson WC, Aujay MA, Bheddah S, Black K, Desai R, Escarpe PA, Hampl J, Laysang A, Liu D, Lopez-Molina J, Milton M, Park A, Pysz MA, Shao H, Slingerland B, Torgov M, Williams SA, Foord O, Howard P, Jassem J, Badzio A, Czapiewski P, Harpole DH, Dowlati A, Massion PP, Travis WD, Pietanza MC, Poirier JT, Rudin CM, Stull RA, Dylla SJ (August 2015). "A DLL3-targeted antibody-drug conjugate eradicates high-grade pulmonary neuroendocrine tumor-initiating cells in vivo". Sci. Transl. Med. 7 (302): 302. doi:10.1126/scitranslmed.aac9459. PMC 4934375. PMID 26311731.
  10. ^ "Rovalpituzumab tesirine - Stemcentrx - AdisInsight".
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Further reading

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