SLC36A2
Proton-coupled amino acid transporter 2 is a protein which in humans is encoded by the ''SLC36A2'' gene. Function SLC36A2 transports small amino acids (glycine, alanine, and proline) and also the D-enantiomers and select amino acid derivatives, such as gamma-aminobutyric acid. Clinical significance Mutations in the SLC36A2 gene are associated with Iminoglycinuria. See also * Proton coupled amino acid transporter Proton-coupled amino acid transporters belong to the SLC26A5 family; they are protein receptors whose main function is the transmembrane A transmembrane protein (TP) is a type of integral membrane protein that spans the entirety of the cell mem ... References Further reading * * * * * * Solute carrier family {{gene-5-stub ...
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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 (''-uria'' denotes "in the urine"). Iminoglycinuria is a rare and complex disorder, associated with a number of genetic mutations that cause defects in both renal and intestinal transport systems of glycine and imino acids. Imino acids typically contain an imine functional group, instead of the amino group found in amino acids. Proline is considered and usually referred to as an amino acid, but unlike others, it has a secondary amine. This feature, unique to proline, identifies proline also as an imino acid. Hydroxyproline is another imino acid, made from the naturally occurring hydroxylation of proline. Presentation The primary characteristic of iminoglycinuria is the presence of glycine and imino acids in the urine. Otherwise, it is thought ...
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