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GeneQ18041212· pop 7· linked from 259 articles

SLC6A20

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Also known as SIT1, XT3, Xtrp3, solute carrier family 6 member 20, IMINO

Solute carrier family 6, member 20 also known as SLC6A20 is a gene that encodes for the Sodium/imino-acid transporter 1 (SIT1) protein, a plasma membrane proline and glycine transporter.

Gene data

SLC6A20
Name
solute carrier family 6 member 20
Type
protein-coding
Position
45,748,903–45,796,654 (−)
Aliases
IMINO, SIT1, XT3, Xtrp3
Ensembl
ENSG00000163817
RefSeq RNA
NM_001385683.1, NM_001406066.1, NM_001406067.1, NM_001406069.1, NM_020208.4
RefSeq protein
NP_001372612.1, NP_001392995.1, NP_001392996.1, NP_001392998.1, NP_064593.1

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 belongs to the sodium:neurotransmitter symporter (SNF) family and functions as a proline transporter expressed in kidney and small intestine. Mutations in this gene are associated with Hyperglycinuria and Iminoglycinuria. [provided by RefSeq, Jul 2020].

Gene Ontology

Pathways

DiseaseAmino acid transport across the plasma membraneTransport of small moleculesSLC-mediated transmembrane transportSLC-mediated transport of neurotransmittersVariant SLC6A20 affecting neurotransmitter transport contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)SLC transporter disordersDisorders of transmembrane transportersVariant SLC6A20 affecting amino acid transport contributes towards hyperglycinuria (HG) and iminoglycinuria (IG)SLC-mediated transport of amino acids

via MyGene.info

Gene · Ensembl

solute carrier family 6 member 20

Symbol
SLC6A20
Biotype
Protein coding
Organism
Homo sapiens
Location
3:45,748,903-45,796,654
Strand
Reverse (−)
Assembly
GRCh38
View on Ensembl →

via Ensembl · EMBL-EBI

~2 min read

Encyclopedic overview

3 sections
Contents
  • Function
  • Clinical significance
  • References

Solute carrier family 6, member 20 also known as SLC6A20 is a gene that encodes for the Sodium/imino-acid transporter 1 (SIT1) protein, a plasma membrane proline and glycine transporter.

== Function == The Sodium/imino-acid transporter 1 (SIT1) protein is a member of the solute carrier superfamily of transport proteins. SIT1 is a Na+ and Cl− coupled symporter, like other SLC6 amino acid and amine transporters, and a homolog of the Bacterial Leucine Transporter.

Excerpted from Wikipedia’s “SLC6A20” article, available under the CC BY-SA 4.0 licence.

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