Gene Symbol | DLL3 |
Entrez Gene ID | 10683 |
Full Name | delta like canonical Notch ligand 3 |
Synonyms | SCDO1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Spondylocostal dysostosis 1, autosomal recessive, 277300 (3) |