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Cytoplasmic expression in the CNS and placental syncytiotrophoblasts. Distinct expression in Purkinje cells.
DATA RELIABILITY
Data reliability description
Secreted protein, tissue location of RNA and protein might differ and correlation is complex. External characterization data supports antibody staining.
This gene encodes a highly conserved neurotrophic factor. The recombinant form of this protein 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. The encoded protein is processed to a mature secreted form that exists as a homodimer. The mature form of the protein is a ligand for the product of the RET (rearranged during transfection) protooncogene. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene may be associated with Hirschsprung disease. [provided by RefSeq, Jun 2010]