Entity Details

Primary name SLC6A20
Entity type gene
Source Source Link

Details

PrimaryID54716
RefseqGeneNG_023204
SymbolSLC6A20
Namesolute carrier family 6 member 20
Chromosome3
Location3p21.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-11-13
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsS6A20_HUMAN

GO terms

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GOName
GO:0005298 proline:sodium symporter activity
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006865 amino acid transport
GO:0015171 amino acid transmembrane transporter activity
GO:0015175 neutral amino acid transmembrane transporter activity
GO:0015188 L-isoleucine transmembrane transporter activity
GO:0015193 L-proline transmembrane transporter activity
GO:0015199 amino-acid betaine transmembrane transporter activity
GO:0015816 glycine transport
GO:0015824 proline transport
GO:0015838 amino-acid betaine transport
GO:0016324 apical plasma membrane
GO:0035725 sodium ion transmembrane transport
GO:0089718 amino acid import across plasma membrane
GO:0150104 transport across blood-brain barrier
GO:1903806 L-isoleucine import across plasma membrane
GO:1904271 L-proline import across plasma membrane
GO:1905647 proline import across plasma membrane

Diseases

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Disease IDSourceNameDescription
138500 OMIMHyperglycinuria (HG)A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones. The disease is caused by variants affecting the gene represented in this entry.
242600 OMIMIminoglycinuria (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. The disease is caused by variants affecting the gene represented in this entry. 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.

Interactions

10 interactions