Delta-like 3 (Drosophila), also known as DLL3, is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
which in humans is encoded by the ''DLL3''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
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.
Expression of DLL3 is highest in fetal brain. It plays a key role in somitogenesis within the
Paraxial mesoderm
Paraxial mesoderm, also known as presomitic or somitic mesoderm is the area of mesoderm in the neurulating embryo that flanks and forms simultaneously with the neural tube. The cells of this region give rise to somites, blocks of tissue running ...
.
Clinical significance
Mutations in this gene cause the autosomal recessive genetic disorder
Jarcho-Levin syndrome
Spondylocostal dysostosis, also known as Jarcho-Levin syndrome (JLS), is a rare, heritable axial skeleton growth disorder. It is characterized by widespread and sometimes severe malformations of the vertebral column and ribs, shortened thorax, an ...
.
Expression of the gene occurs in
Neuroendocrine tumor
Neuroendocrine tumors (NETs) are neoplasms that arise from cells of the endocrine (hormonal) and nervous systems. They most commonly occur in the intestine, where they are often called carcinoid tumors, but they are also found in the pancreas, lun ...
s, which has been targeted as a potential pathway for treatment.
An experimental drug,
rovalpituzumab tesirine, targets DLL3 as a possible treatment for lung cancer.
References
External links
GeneReviews/NIH/NCBI/UW entry on Spondylocostal Dysostosis, Autosomal Recessive
Further reading
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