TCDB is operated by the Saier Lab Bioinformatics Group
Transporter Information:
Name: solute carrier family 12 (potassium/chloride transporters), member 8
Symbol: SLC12A8
TC: 2.A.30.3.1
Locations: 3
Swiss-Prot: Q8NFX9
Accession Number: NM_024628
PubMed (11863360): Hewett D, Samuelsson L, Polding J, Enlund F, Smart D, Cantone K, See CG,Chadha S, Inerot A, Enerback C, Montgomery D, Christodolou C, Robinson P,Matthews P, Plumpton M, Wahlstrom J, Swanbeck G, Martinsson T, Roses A, Riley J,Purvis I. Identification of a psoriasis susceptibility candidate gene by linkagedisequilibrium mapping with a localized single nucleotide polymorphism map.Genomics. 2002 Mar;79(3):305-14. PMID: 11863360 [PubMed - indexed for MEDLINE]

Psoriasis is a chronic inflammatory disease of the skin with both genetic and environmental risk factors. Here we describe the creation of a single-nucleotide polymorphism (SNP) map spanning 900-1200 kb of chromosome 3q21, which had been previously recognized as containing a psoriasis susceptibility locus, PSORS5. We genotyped 644 individuals, from 195 Swedish psoriatic families, for 19 polymorphisms. Linkage disequilibrium (LD) between marker and disease was assessed using the transmission/disequilibrium test (TDT). In the TDT analysis, alleles of three of these SNPs showed significant association with disease (P<0.05). A 160-kb interval encompassing these three SNPs was sequenced, and a coding sequence consisting of 13 exons was identified. The predicted protein shares 30-40% homology with the family of cation/chloride cotransporters. A five-marker haplotype spanning the 3' half of this gene is associated with psoriasis to a P value of 3.8<10(-5). We have called this gene SLC12A8, coding for a member of the solute carrier family 12 proteins. It belongs to a class of genes that were previously unrecognized as playing a role in psoriasis pathogenesis.