SLC6A20 gene

solute carrier family 6 member 20

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Jul 2008]

From UniProt:

Mediates the calcium-dependent uptake of imino acids such as L-proline, N-methyl-L-proline and pipecolate as well as N-methylated amino acids. Involved in the transport of glycine.

From NCBI Gene:

  • Hyperglycinuria
  • Iminoglycinuria

From UniProt:

Iminoglycinuria (IG): 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. [MIM:242600]

Hyperglycinuria (HG): A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones. [MIM:138500]

Cytogenetic Location: 3p21.31, which is the short (p) arm of chromosome 3 at position 21.31

Molecular Location: base pairs 45,755,449 to 45,796,553 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p21.31, which is the short (p) arm of chromosome 3 at position 21.31
  • SIT1
  • XT3
  • Xtrp3