TAC3

TACHYKININ 3

• OMIM 162330
• Located at chromosome 12q13-q21
• Encodes neurokinin B (NKB), a member of the tachykinin family of neurotransmitter peptides.
• TAC3 comprises 7 exons (5 coding exons) and the corresponding mRNA (NM_013251.3) encodes a 121 amino acid protein
• NKB is the ligand of TACR3/NK3R tachykinin receptor 3 (TACR3), also called NKB receptor.

Human genetics

• Mutations in TAC3 causing normosmic congenital hypogonadotropic hypogonadism were found in intron 3, exon 4 and exon 5 (Topaloglu, Reimann et al. 2009; Young, Bouligand et al. 2010).

• 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 TAC3 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.

Young, J., J. Bouligand, et al. (2010). "TAC3 and TACR3 defects cause hypothalamic congenital hypogonadotropic hypogonadism in humans." J Clin Endocrinol Metab95(5): 2287-2295.