5mr4 | pdb_00005mr4
From Proteopedia
Structural highlights
Disease[NRTN_HUMAN] Hirschsprung disease. Genetic variations in NRTN may contribute to Hirschsprung disease, in association with mutations of RET gene, and possibly mutations in other loci. Hirschsprung disease is a disorder of neural crest development is characterized by the absence of intramural ganglion cells in the hindgut, often resulting in intestinal obstruction.[1] Function[NRTN_HUMAN] Supports the survival of sympathetic neurons in culture. May regulate the development and maintenance of the CNS. Might control the size of non-neuronal cell population such as haemopoietic cells. [GFRA2_HUMAN] Receptor for neurturin. Mediates the NRTN-induced autophosphorylation and activation of the RET receptor. Also able to mediate GDNF signaling through the RET tyrosine kinase receptor. Isoform 2: participates in NRTN-induced 'Ser-727' phosphorylation of STAT3.[UniProtKB:O08842] References | ||||||||||||||||||||
This page was last modified 06:47, 17 January 2018.