<n0:ComplexDefinition xmlns:n0="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><n0:def-definition>Human MANF wild-type allele is located in the vicinity of 3p21.1 and is approximately 4 kb in length. This allele, which encodes mesencephalic astrocyte-derived neurotrophic factor protein, plays a role in both the modulation of GABA neurotransmission and the mediation of dopaminergic neuron survival.</n0:def-definition><n0:def-source>NCI</n0:def-source></n0:ComplexDefinition>
nci:P98
The product of the MANF gene was originally thought to have an arginine-rich sequence in the amino terminal region, however; this genetic information is in the 5'-untranslated region of the mRNA. The mutation that is involved in tumor formation occurs in the initiation codon of the gene (previously numbered as codon 50) and results from either deletion of the codon or a point mutation (AUG to AGG). (Entrez Gene and SwissProt)