DLL3

DLL3
Delta-like 3 (Drosophila)
Identifiers
Symbols DLL3; SCDO1
External IDs OMIM602768 MGI1096877 HomoloGene7291 GeneCards: DLL3 Gene
RNA expression pattern
PBB GE DLL3 219537 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 10683 13389
Ensembl ENSG00000090932 ENSMUSG00000003436
UniProt Q9NYJ7 Q3UND5
RefSeq (mRNA) NM_016941.3 NM_007866.2
RefSeq (protein) NP_058637.1 NP_031892.2
Location (UCSC) Chr 19:
39.99 – 40 Mb
Chr 7:
29.08 – 29.09 Mb
PubMed search [1] [2]

Delta-like 3 (Drosophila), also known as DLL3, is a protein which in humans is encoded by the DLL3 gene.[1] Two transcript variants encoding distinct isoforms have been identified for this gene.

Contents

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.[2]

Clinical significance

Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1.[3]

External Links

References

  1. ^ 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1378088. 
  2. ^ "Entrez Gene: DLL3 delta-like 3 (Drosophila)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10683. 
  3. ^ 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. 

Further reading



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