2v5e: Difference between revisions
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{{STRUCTURE_2v5e| PDB=2v5e | SCENE= }} | {{STRUCTURE_2v5e| PDB=2v5e | SCENE= }} | ||
===THE STRUCTURE OF THE GDNF\:CORECEPTOR COMPLEX\: INSIGHTS INTO RET SIGNALLING AND HEPARIN BINDING.=== | |||
{{ABSTRACT_PUBMED_18845535}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/GDNF_HUMAN GDNF_HUMAN]] Defects in GDNF may be a cause of Hirschsprung disease type 3 (HSCR3) [MIM:[http://omim.org/entry/613711 613711]]. In association with mutations of RET gene, defects in GDNF may be involved in Hirschsprung disease. This genetic disorder of neural crest development is characterized by the absence of intramural ganglion cells in the hindgut, often resulting in intestinal obstruction.<ref>PMID:8968758</ref><ref>PMID:8896568</ref><ref>PMID:8896569</ref><ref>PMID:10917288</ref> Defects in GDNF are a cause of congenital central hypoventilation syndrome (CCHS) [MIM:[http://omim.org/entry/209880 209880]]; also known as congenital failure of autonomic control or Ondine curse. CCHS is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia.<ref>PMID:9497256</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/GFRA1_RAT GFRA1_RAT]] Receptor for GDNF. Mediates the GDNF-induced autophosphorylation and activation of the RET receptor. [[http://www.uniprot.org/uniprot/GDNF_HUMAN GDNF_HUMAN]] Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake.<ref>PMID:8493557</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:018845535</ref><references group="xtra"/> | <ref group="xtra">PMID:018845535</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Rattus norvegicus]] | [[Category: Rattus norvegicus]] | ||
