Neurokinin B (NKB)

In a consanguineous Turkish family with normosmic hypogonadotropic hypogonadism mapping to chromosome 12q, Topaloglu et al.analyzed the candidate gene TAC3 and identified homozygosity for a missense mutation in 2 affected sisters. Functional studies showed that the mutant protein had 10-fold less activity than wildtype, and the mutation was not found in 100 Turkish controls.It is found in higher concentration in pregnant women suffering pre-eclampsia and can bind the immune-cloaking molecule phosphocholine. Neurokinin B and its receptor, neurokinin 3 receptor, are critical parts of the control system that switches on the master regulator of human puberty, governed by the brain through the release of the hormone GnRH which starts a series of processes that ultimately leads to the production of sex hormones.