The human GDNF precursor is processed to a mature 134-amino acid protein with 2 potential N-linked glycosylation sites; it exists as a homodimer. The mature protein contains 7 conserved cysteine residues spaced similarly to members of the TGF-beta superfamily (MIM.190180).
Pathology
germline mutations in
- Hirschsprung disease (MIM.142623)
- renal agenesis (with RET mutations) (18252215)
Reviews
Airaksinen MS, Saarma M. The GDNF family: signalling, biological functions and therapeutic value. Nat Rev Neurosci. 2002 May;3(5):383-94. PMID: 11988777
See also
Hirschsprung disease genes
| RET | GDNF | NTRN | SOX10 | EDNRB | EDN3 | ECE1 | ZFHX1B | phox2b | TCF4 |
References
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. (Letter) Am. J. Hum. Genet. 62: 715-717, 1998. PubMed ID : 9497256
Angrist, M.; Bolk, S.; Halushka, M.; Lapchak, P. A.; Chakravarti, A. : Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nature Genet. 14: 341-343, 1996. PubMed ID : 8896568
Anitha, M.; Gondha, C.; Sutliff, R.; Parsadanian, A.; Mwangi, S.; Sitaraman, S. V.; Srinivasan, S. : GDNF rescues hyperglycemia-induced diabetic enteric neuropathy through activation of the PI3K/Akt pathway. J. Clin. Invest. 116: 344-356, 2006. PubMed ID : 16453021
Bahuau, M.; Pelet, A.; Vidaud, D.; Lamireau, T.; Le Bail, B.; Munnich, A.; Vidaud, M.; Lyonnet, S.; Lacombe, D. : GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype. (Letter) J. Med. Genet. 38: 638-643, 2001. PubMed ID : 11565554