2kb9: Difference between revisions

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[[Image:2kb9.png|left|200px]]
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{{STRUCTURE_2kb9|  PDB=2kb9  |  SCENE=  }}  
{{STRUCTURE_2kb9|  PDB=2kb9  |  SCENE=  }}  
===Human Jagged-1, exon 6===
===Human Jagged-1, exon 6===
{{ABSTRACT_PUBMED_19586525}}


==Disease==
[[http://www.uniprot.org/uniprot/JAG1_HUMAN JAG1_HUMAN]] Defects in JAG1 are the cause of Alagille syndrome type 1 (ALGS1) [MIM:[http://omim.org/entry/118450 118450]]. Alagille syndrome is an autosomal dominant multisystem disorder defined clinically by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems.<ref>PMID:9207788</ref><ref>PMID:9207787</ref><ref>PMID:9585603</ref><ref>PMID:10220506</ref><ref>PMID:10533065</ref><ref>PMID:11058898</ref><ref>PMID:11157803</ref><ref>PMID:11139247</ref><ref>PMID:11180599</ref><ref>PMID:12442286</ref><ref>PMID:12497640</ref><ref>PMID:15712272</ref><ref>PMID:16575836</ref>  Defects in JAG1 are a cause of tetralogy of Fallot (TOF) [MIM:[http://omim.org/entry/187500 187500]]. TOF is a congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. This condition results in a blue baby at birth due to inadequate oxygenation. Surgical correction is emergent.<ref>PMID:9207787</ref><ref>PMID:11152664</ref>


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==Function==
The line below this paragraph, {{ABSTRACT_PUBMED_19586525}}, adds the Publication Abstract to the page
[[http://www.uniprot.org/uniprot/JAG1_HUMAN JAG1_HUMAN]] Ligand for multiple Notch receptors and involved in the mediation of Notch signaling. May be involved in cell-fate decisions during hematopoiesis. Seems to be involved in early and late stages of mammalian cardiovascular development. Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth factor-induced angiogenesis (in vitro).<ref>PMID:9462510</ref><ref>PMID:18660822</ref>  
(as it appears on PubMed at http://www.pubmed.gov), where 19586525 is the PubMed ID number.
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{{ABSTRACT_PUBMED_19586525}}


==About this Structure==
==About this Structure==
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==Reference==
==Reference==
<ref group="xtra">PMID:019586525</ref><references group="xtra"/>
<ref group="xtra">PMID:019586525</ref><references group="xtra"/><references/>
[[Category: Guarnaccia, C.]]
[[Category: Guarnaccia, C.]]
[[Category: Pintar, A.]]
[[Category: Pintar, A.]]
[[Category: Pongor, S.]]
[[Category: Pongor, S.]]
[[Category: Calcium]]
[[Category: Developmental protein]]
[[Category: Developmental protein]]
[[Category: Disease mutation]]
[[Category: Disease mutation]]
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[[Category: Notch signaling]]
[[Category: Notch signaling]]
[[Category: Notch signaling pathway]]
[[Category: Notch signaling pathway]]
[[Category: Polymorphism]]
[[Category: Protein binding]]
[[Category: Protein binding]]
[[Category: Transmembrane]]
[[Category: Transmembrane]]
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