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3fub

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Template:STRUCTURE 3fub

Contents

Crystal structure of GDNF-GFRalpha1 complex

Template:ABSTRACT PUBMED 19478429

Disease

[GDNF_HUMAN] Defects in GDNF may be a cause of Hirschsprung disease type 3 (HSCR3) [MIM: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.[1][2][3][4] Defects in GDNF are a cause of congenital central hypoventilation syndrome (CCHS) [MIM: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.[5]

Function

[GFRA1_RAT] Receptor for GDNF. Mediates the GDNF-induced autophosphorylation and activation of the RET receptor. [GDNF_HUMAN] Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake.[6]

About this Structure

3fub is a 4 chain structure with sequence from Homo sapiens and Rattus norvegicus. Full crystallographic information is available from OCA.

Reference

  • Parkash V, Goldman A. Comparison of GFL-GFRalpha complexes: further evidence relating GFL bend angle to RET signalling. Acta Crystallogr Sect F Struct Biol Cryst Commun. 2009 Jun 1;65(Pt, 6):551-8. Epub 2009 May 23. PMID:19478429 doi:10.1107/S1744309109017722
  1. ↑ Ivanchuk SM, Myers SM, Eng C, Mulligan LM. De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease. Hum Mol Genet. 1996 Dec;5(12):2023-6. PMID:8968758
  2. ↑ Angrist M, Bolk S, Halushka M, Lapchak PA, Chakravarti A. Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nat Genet. 1996 Nov;14(3):341-4. PMID:8896568 doi:10.1038/ng1196-341
  3. ↑ Salomon R, Attie T, Pelet A, Bidaud C, Eng C, Amiel J, Sarnacki S, Goulet O, Ricour C, Nihoul-Fekete C, Munnich A, Lyonnet S. Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. Nat Genet. 1996 Nov;14(3):345-7. PMID:8896569 doi:10.1038/ng1196-345
  4. ↑ Martucciello G, Ceccherini I, Lerone M, Jasonni V. Pathogenesis of Hirschsprung's disease. J Pediatr Surg. 2000 Jul;35(7):1017-25. PMID:10917288
  5. ↑ Amiel J, Salomon R, Attie T, Pelet A, Trang H, Mokhtari M, Gaultier C, Munnich A, Lyonnet S. Mutations of the RET-GDNF signaling pathway in Ondine's curse. Am J Hum Genet. 1998 Mar;62(3):715-7. PMID:9497256 doi:10.1086/301759
  6. ↑ Lin LF, Doherty DH, Lile JD, Bektesh S, Collins F. GDNF: a glial cell line-derived neurotrophic factor for midbrain dopaminergic neurons. Science. 1993 May 21;260(5111):1130-2. PMID:8493557

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