Delta Like Protein 3 (dLL3)

SCDO1; Delta3; Drosophila Delta homolog 3

SPN	O492
HGNC	2909
MGI	1096877
PubMed	9272948
RGD	70953
UniProt	Q9NYJ7
Wiki	DLL3

DLL3 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.

In humans, the fact that mutations in genes required for oscillation, such as DLL3, result in abnormal segmentation of the vertebral column suggests that the segmentation clock also acts during human embryonic development. Disruption of the Notch pathway occurs in Alagille syndrome , a disorder that has vertebral abnormalities, i.e., 'butterfly vertebrae,' as a feature in about two-thirds of patients.

Reference

"Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis."
Nat. Genet. 24:438-441(2000) [PubMed] [Europe PMC] [Abstract]

"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biology of human chromosome 19."
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome."
Am. J. Hum. Genet. 82:1334-1341(2008) [PubMed] [Europe PMC] [Abstract]