SLC36A2 Antibody – Mouse Monoclonal

This gene encodes a pH-dependent proton-coupled amino acid transporter that belongs to the amino acid auxin permease 1 protein family. The encoded protein primarily transports small amino acids such as glycine, alanine and proline. Mutations in this gene are associated with iminoglycinuria and hyperglycinuria. [provided by RefSeq, Sep 2010]

SLC36A2: Involved in a pH-dependent electrogenic neuronal transport and sequestration of small amino acids. Transports glycine and proline. Inhibited by sarcosine. Defects in SLC36A2 are a cause of hyperglycinuria (HG). It is a condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones. Defects in SLC36A2 are a cause of iminoglycinuria (IG). It is a disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine. Mutations in SLC36A2 that retain residual transport activity result in the IG phenotype only when combined with haploinsufficiency of the imino acid transporter SLC6A20 or deficiency of the neutral amino acid transporter SLC6A19. Additional polymorphisms and mutations in SLC6A18 can contribute to iminoglycinuria in some families. Belongs to the amino acid/polyamine transporter 2 family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, SLC family

Chromosomal Location of Human Ortholog: 5q33.1

Cellular Component: cytoplasm; integral to membrane; plasma membrane

Molecular Function: amino acid transmembrane transporter activity; glycine transmembrane transporter activity; hydrogen ion transmembrane transporter activity; hydrogen:amino acid symporter activity; L-alanine transmembrane transporter activity; L-proline transmembrane transporter activity

Biological Process: amino acid transport; glycine transport; ion transport; L-alanine transport

Disease: Hyperglycinuria; Iminoglycinuria