Delta-like 3 (Drosophila), also known as DLL3, is a protein which in humans is encoded by the DLL3gene.[5] 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.[6] Expression of DLL3 is highest in fetal brain. It plays a key role in somitogenesis within the Paraxial mesoderm.[7]
Clinical significance
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]
Bulman MP, Kusumi K, Frayling TM, et al. (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. PMID10742114.
Dunwoodie SL, Clements M, Sparrow DB, et al. (2002). "Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of the segmentation clock within the presomitic mesoderm". Development. 129 (7): 1795–806. PMID11923214.
Bonafé L, Giunta C, Gassner M, et al. (2004). "A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village". Clin. Genet. 64 (1): 28–35. doi:10.1034/j.1399-0004.2003.00085.x. PMID12791036.
Whittock NV, Ellard S, Duncan J, et al. (2005). "Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations". Clin. Genet. 66 (1): 67–72. doi:10.1111/j.0009-9163.2004.00272.x. PMID15200511.