Biology:DLL3

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Delta-like 3 (Drosophila), also known as DLL3, is a protein which in humans is encoded by the DLL3 gene.[1] Two transcript variants encoding distinct isoforms have been identified for this gene.

Function

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.[2] Expression of DLL3 is highest in fetal brain. It plays a key role in somitogenesis within the Paraxial mesoderm.[3]

Clinical significance

Mutations in this gene cause the autosomal recessive genetic disorder Jarcho-Levin syndrome.[4] Expression of the gene occurs in Neuroendocrine tumors, which has been targeted as a potential pathway for treatment.[5]

An experimental drug, rovalpituzumab tesirine, targets DLL3 as a possible treatment for lung cancer.[6]

References

  1. "A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3". Am. J. Hum. Genet. 65 (1): 175–82. July 1999. doi:10.1086/302464. PMID 10364530. 
  2. "Entrez Gene: DLL3 delta-like 3 (Drosophila)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10683. 
  3. "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. March 2011. doi:10.1093/hmg/ddq529. PMID 21147753. 
  4. "Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis". Nat. Genet. 24 (4): 438–41. April 2000. doi:10.1038/74307. PMID 10742114. 
  5. "A DLL3-targeted antibody-drug conjugate eradicates high-grade pulmonary neuroendocrine tumor-initiating cells in vivo". Sci. Transl. Med. 7 (302): 302. August 2015. doi:10.1126/scitranslmed.aac9459. PMID 26311731. 
  6. "Rovalpituzumab tesirine - Stemcentrx - AdisInsight". http://adisinsight.springer.com/drugs/800038447. 

External links

Further reading