Gene: GDNF-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: GDNF

Alternate names for this Gene: ATF|ATF1|ATF2|HFB1-GDNF|HSCR3

Gene Summary: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The recombinant form of this protein, a highly conserved neurotrophic factor, was shown to promote the survival and differentiation of dopaminergic neurons in culture, and was able to prevent apoptosis of motor neurons induced by axotomy. This protein is a ligand for the product of the RET (rearranged during transfection) protooncogene. Mutations in this gene may be associated with Hirschsprung disease and Tourette syndrome. This gene encodes multiple protein isoforms that may undergo similar proteolytic processing.

Gene is located in Chromosome: 5

Location in Chromosome : 5p13.2

Description of this Gene: glial cell derived neurotrophic factor

Type of Gene: protein-coding

rs36119840 in GDNF-AS1;GDNF gene and Congenital central hypoventilation PMID 20208042 2010 An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.

PMID 9497256 1998 Mutations of the RET-GDNF signaling pathway in Ondine's curse.

rs104893891 in GDNF-AS1;GDNF gene and HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3 PMID 8968758 1996 De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease.

PMID 10917288 2000 Pathogenesis of Hirschsprung's disease.

PMID 8896569 1996 Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.

PMID 8896568 1996 Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient.

rs36119840 in GDNF-AS1;GDNF gene and Pheochromocytoma PMID 9215674 1997 No GDNF mutations were identified in patients with familial phaeochromocytoma disease, but a c277C-->T (R93W) sequence variant was identified in one of 28 sporadic tumours.