Gene: TAC3

Alternate names for this Gene: HH10|LncZBTB39|NK3|NKB|NKNB|PRO1155|ZNEUROK1

Gene Summary: This gene encodes a member of the tachykinin family of secreted neuropeptides. The encoded preproprotein is proteolytically processed to generate the mature peptide, which is primarily expressed in the central and peripheral nervous systems and functions as a neurotransmitter. This peptide is the ligand for the neurokinin-3 receptor. This protein is also expressed in the outer syncytiotrophoblast of the placenta and may be associated with pregnancy-induced hypertension and pre-eclampsia. Mutations in this gene are associated with normosmic hypogonadotropic hypogonadism. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.3

Description of this Gene: tachykinin precursor 3

Type of Gene: protein-coding

rs121918123 in TAC3 gene and HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA PMID 19079066 2009 TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction.

PMID 23643382 2013 Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.

rs117444538 in TAC3 gene and RDW - Red blood cell distribution width result PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs117444538 in TAC3 gene and Red cell distribution width determination PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.