Solute carrier family 6, member 20 also known as SLC6A20 is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respon ...

which in humans is encoded by the ''SLC6A20''

gene In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...

Function

Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific

transporter Transporter may refer to: * Transporter (vehicles), types of vehicles designed to transport items * Transporter wagon, a railway car designed to carry another railway car * Volkswagen Transporter, a model of van * Transporter bridge, a bridge wh ...

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 Iminoglycinuria is an autosomal recessive disorder of renal tubular transport affecting reabsorption of the amino acid glycine, and the imino acids proline and hydroxyproline. This results in excess urinary excretion of all three acids (' ...

. One of a cluster of 6 genes ''(SLC6A20'', ''LZTFL1'', ''CCR9'', ''FYCO1'', ''CXCR6'' and ''XCR1'') on chromosome 3 at location 3p21.31 associated with a genetic susceptibility to COVID-19 respiratory failure.

Function

Clinical significance

References

Further reading