TAC3 Chromosome 12

Tachykinin precursor 3
6 variants 6 Health Risk

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What This Gene Does
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. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
Tachykinin precursors
Locus Type
gene with protein product
Location
12q13.3
Ensembl
ENSG00000166863
Associated Conditions (6)
Delayed puberty
Infertility disorder
Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 7 with or without anosmia
HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA
Hypogonadotropic hypogonadism 10 with or without anosmia
Key Variants
All Variants (6)
RSID Category Clinical Significance Conditions
RS143862988 Health Risk Conflicting classifications of pathogenicity Delayed puberty, Infertility disorder, Delayed puberty
RS146391497 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
RS2547948030 Health Risk Likely pathogenic
RS727505372 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Delayed puberty, Hypogonadotropic hypogonadism 7 with or without anosmia
RS121918123 Health Risk Pathogenic HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA
RS398122393 Health Risk Pathogenic Hypogonadotropic hypogonadism 10 with or without anosmia, Hypogonadotropic hypogonadism 10 with or without anosmia
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