Entrez 54716 | Ensembl ENSG00000163817 | |
Aliases SLC6A20, SIT1, XT3, Xtrp3, solute carrier family 6 member 20 External IDs MGI: 2143217 HomoloGene: 10625 GeneCards: SLC6A20 | ||
Solute carrier family 6, member 20 also known as SLC6A20 is a protein which in humans is encoded by the SLC6A20 gene.
Contents
Function
Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene is a member of the subgroup of transporter with unidentified substrates within the Na+ and Cl− coupled transporter family. This gene is expressed in kidney, and its alternative splicing generates 2 transcript variants.
Clinical significance
Mutation in the SLC6A20 gene are associated with iminoglycinuria.
References
SLC6A20 Wikipedia(Text) CC BY-SA