BC126197
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
61,751 Da
NCBI Official Full Name
Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20, mRNA
NCBI Official Synonym Full Names
solute carrier family 6 member 20
NCBI Protein Information
sodium- and chloride-dependent transporter XTRP3
UniProt Protein Name
Sodium- and chloride-dependent transporter XTRP3
UniProt Synonym Protein Names
Sodium/imino-acid transporter 1; Solute carrier family 6 member 20; Transporter rB21A homolog
UniProt Synonym Gene Names
UniProt Entry Name
S6A20_HUMAN
NCBI Summary for SLC6A20
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]
UniProt Comments for SLC6A20
SLC6A20: 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. Defects in SLC6A20 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 SLC6A20 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. Haploinsufficiency of SLC6A20 combined with deficiency of the neutral amino acid transporter SLC6A19 or partially inactivating mutations in SLC36A2, is responsible for iminoglycinuria. Additional polymorphisms and mutations in SLC6A18 can contribute to the IG phenotype in some families. Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A20 subfamily. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Transporter; Membrane protein, integral; Membrane protein, multi-pass; Transporter, SLC family
Chromosomal Location of Human Ortholog: 3p21.3
Cellular Component: apical plasma membrane; integral to plasma membrane; plasma membrane
Molecular Function: amino acid transmembrane transporter activity; glycine:sodium symporter activity; protein binding
Biological Process: amino acid transport; glycine transport; proline transport; synaptic transmission, glycinergic
Disease: Hyperglycinuria; Iminoglycinuria
Research Articles on SLC6A20
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Pathways associated with SLC6A20 cdna clone
Diseases associated with SLC6A20 cdna clone
Organs/Tissues associated with SLC6A20 cdna clone
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