GDNF homodimerizes and has 5 isoforms along with a signal and propeptide, so there is a potential for multiple bands in western blot.
功能Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake.
组织特异性In the brain, predominantly expressed in the striatum with highest levels in the caudate and lowest in the putamen.
疾病相关Defects in GDNF may be a cause of Hirschsprung disease (HSCR) [MIM:142623]. 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. 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.
序列相似性Belongs to the TGF-beta family. GDNF subfamily.