TACHYKININ RECEPTOR 3

• OMIM 162332
• Located at chromosome 4q25.
• Encodes the G protein-coupled receptor tachykinin receptor 3 (TACR3) also called neurokinin B (NKB) receptor.
• TACR3 comprises 5 exons and the corresponding mRNA (NM_001059.2) encodes a 465 amino acid protein

Human genetics

• Mutations in TACR3 causing normosmic congenital hypogonadotropic hypogonadism are spread all over the gene (Gianetti, Tusset et al. 2010).(Topaloglu, Reimann et al. 2009)

• There is a well defined interplay between KISS1 and NKB. TAC3/TACR3 is critical during neonatal period and puberty, but recovery cases in adulthood have been described in some patients carrying TACR3 mutations (Gianetti, Tusset et al. 2010).

References

Gianetti, E., C. Tusset, et al. (2010). "TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood." J Clin Endocrinol Metab95(6): 2857-2867.

Topaloglu, A. K., F. Reimann, et al. (2009). "TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction." Nat Genet41(3): 354-358.