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neurturin (NRTN)
Function:
- supports survival of sympathetic neurons in culture
- may regulate development & maintenance of the CNS
- might control the size of non-neuronal cell population such as haemopoietic cells
Structure:
- homodimer; disulfide-linked
- belongs to the TGF-beta family, GDNF subfamily
Compartment: secreted
Pathology:
- genetic variations in NRTN may contribute to Hirschsprung disease, in association with mutations of RET gene, & possibly mutations in other loci
General
growth factor
secreted protein
Properties
SIZE: entity length = 197 aa
MW = 22 kD
COMPARTMENT: extracellular compartment
MOTIF: signal sequence {1-19}
cysteine residue {C103}
MODIFICATION: cysteine residue {C165}
cysteine residue {C130}
MODIFICATION: cysteine residue {C194}
cysteine residue {C134}
MODIFICATION: cysteine residue {C196}
cysteine residue {C164}
MODIFICATION: cysteine residue {CINTERCHAIN (BY SIMILARITY}
cysteine residue {C165}
MODIFICATION: cysteine residue {C103}
cysteine residue {C194}
MODIFICATION: cysteine residue {C130}
cysteine residue {C196}
MODIFICATION: cysteine residue {C134}
Database Correlations
OMIM 602018
UniProt Q99748
Pfam PF00019
Entrez Gene 4902
Kegg hsa:4902
References
- UniProt :accession Q99748
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/NRTN