RecName: Full=Solute carrier family 12 member 1; AltName: Full=Bumetan - Protein

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Diacidic Motifs in the Carboxyl Terminus Are Required for ER Exit and Translocation to the Plasma Membrane of NKCC2. [Int J Mol Sci. 2022]
Diacidic Motifs in the Carboxyl Terminus Are Required for ER Exit and Translocation to the Plasma Membrane of NKCC2.
Bakhos-Douaihy D, Seaayfan E, Frachon N, Demaretz S, Kömhoff M, Laghmani K. Int J Mol Sci. 2022 Oct 23; 23(21). Epub 2022 Oct 23.
Novel SLC12A1 mutations cause Bartter syndrome in two patients with different prognoses. [Clin Chim Acta. 2022]
Novel SLC12A1 mutations cause Bartter syndrome in two patients with different prognoses.
Yi S, Li M, Yang Q, Zhang X, Chen F, Qin Z, Yi S, Huang L, Wei H, Zhang Q, et al. Clin Chim Acta. 2022 Jun 1; 531:120-125. Epub 2022 Mar 28.
[Functional characterization of SLC12A1 gene variants in 3 patients with Bartter syndrome type Ⅰ]. [Zhonghua Er Ke Za Zhi. 2022]
[Functional characterization of SLC12A1 gene variants in 3 patients with Bartter syndrome type Ⅰ].
Sha YG, Wang CL, Du ZW, Zheng BX, Zhou W, Zhao F, Ding GX, Zhang A. Zhonghua Er Ke Za Zhi. 2022 Feb 2; 60(2):129-133.

RefSeq genomic sequence
See the genomic reference sequence for the SLC12A1 gene (NG_021301.1).
RefSeq protein isoforms
See 3 reference sequence protein isoforms for the SLC12A1 gene.

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Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Solute carrier family 12 member 1; AltName: Full=Bumetanide-sensit...
RecName: Full=Solute carrier family 12 member 1; AltName: Full=Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1; Short=BSC1; AltName: Full=Kidney-specific Na-K-Cl symporter; AltName: Full=Na-K-2Cl cotransporter 2; Short=NKCC2
gi|212276464|sp|Q13621.2|S12A1_HUMA

Protein
Congenital afibrinogenemia
Congenital afibrinogenemia

MedGen
C2584774[conceptid] (1)
MedGen

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Protein