Gene: [05p1/GDNF] glial cell line derived neurotrophic factor; Hirschsprung disease (MIM:142623); [HSCR ]
COM | Schindelhauer-1995 mapped the GDNF gene to Chr 5p13.1-p12 and Bermingham-1995 confirmed the GDNF gene location to Chr 5p13." |
FUN | Glial cell line-derived neurotrophic factor is a potent survival factor for central dopaminergic neurons, motor neurons, and several other populations of neurons in the central and peripheral nervous systems. The GDNF signal is mediated by a complex of the receptor tyrosine kinase RET (GEM:10q112/RET) and a glycosyl-phophatidylinositol (GPI)-linked protein, GDNF family receptor alpha 1 (GEM:10q26/GFRA1) and GDNF family receptor alpha 2 (GEM:08p21/GFRA2)." |
REF | MUT "Angrist M &: Nature Genet, 14, N3, 341-343, 1996 CLO,SEQ,LOC "Bermingham N &: Hum Genet, 96, 671-673, 1995 MUT "Dahia PL &: Cancer Res, 57, N2, 310-313, 1997 MUT,REV "Hofstra RMW &: Eur J Hum Genet, 5, N4, 180-185, 1997 MUT "Ivanchuk SM &: Hum Mol Genet, 5, N12, 2023-2026, 1996 CLO,SEQ "Lin LFH &: Science, 260, 1130-1132, 1993 MUT "Salomon R &: Nature Genet, 14, N3, 345-347, 1996 CLO,SEQ,LOC "Schindelhauer D &: Genomics, 28, 605-607, 1995 |
SWI | SWISSPROT: P39905 |
KEY | neu, cyk |
CLA | coding, basic |
LOC | 05 p13.1-12 |
MIM | MIM: 600837 |
SYN | HSCR |
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