Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia.

@article{Merner2016GainoffunctionMV,
  title={Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia.},
  author={Nancy D Merner and Adriana Mercado and Arjun R. Khanna and Alan Hodgkinson and Vanessa Bruat and Philip Awadalla and Gerardo Gamba and Guy Rouleau and Kristopher Thomas Kahle},
  journal={Journal of psychiatric research},
  year={2016},
  volume={77},
  pages={22-6}
}
Perturbations of γ-aminobutyric acid (GABA) neurotransmission in the human prefrontal cortex have been implicated in the pathogenesis of schizophrenia (SCZ), but the mechanisms are unclear. NKCC1 (SLC12A2) is a Cl(-)-importing cation-Cl(-) cotransporter that contributes to the maintenance of depolarizing GABA activity in immature neurons, and variation in SLC12A2 has been shown to increase the risk for schizophrenia via alterations of NKCC1 mRNA expression. However, no disease-causing mutations… CONTINUE READING
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