Gene: SLC12A6

Alternate names for this Gene: ACCPN|KCC3|KCC3A|KCC3B

Gene Summary: This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy.

Gene is located in Chromosome: 15

Location in Chromosome : 15q14

Description of this Gene: solute carrier family 12 member 6

Type of Gene: protein-coding

rs11631094 in SLC12A6 gene and Barrett Esophagus PMID 29551738 2018 Interactions Between Genetic Variants and Environmental Factors Affect Risk of Esophageal Adenocarcinoma and Barrett's Esophagus.

rs121908427 in SLC12A6 gene and Corpus callosum agenesis neuronopathy PMID 16606917 2006 Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome.

PMID 17893295 2007 Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.

PMID 24341143 2013 A new patient with Andermann syndrome: an underdiagnosed clinical genetics entity?

PMID 12838516 2003 Hereditary motor and sensory neuropathy with agenesis of the corpus callosum.

PMID 12368912 2002 The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.

PMID 18566107 2008 HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3.

PMID 21628467 2011 Transit defect of potassium-chloride Co-transporter 3 is a major pathogenic mechanism in hereditary motor and sensory neuropathy with agenesis of the corpus callosum.

PMID 26392352 2015 Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

PMID 20020398 2009 Andermann syndrome can be a phenocopy of hereditary motor and sensory neuropathy--report of a discordant sibship with a compound heterozygous mutation of the KCC3 gene.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 22462673 2012 Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome.

rs7176426 in SLC12A6 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.