From Wikipedia, the free encyclopedia
Delta-like 3 (Drosophila) , also known as DLL3 , is a protein which in humans is encoded by the DLL3 gene .[ 5]
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]
Clinical significance
Mutations in this gene cause the autosomal recessive genetic disorder Jarcho-Levin syndrome .[ 7]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000090932 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000003436 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ 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 . ^ "Entrez Gene: DLL3 delta-like 3 (Drosophila)" .^ 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 .
External links
Further reading
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