Entity Details

Primary name SLC7A7
Entity type gene
Source Source Link

Details

PrimaryID9056
RefseqGeneNG_012851
SymbolSLC7A7
Namesolute carrier family 7 member 7
Chromosome14
Location14q11.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-01-26
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsYLAT1_HUMAN

GO terms

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GOName
GO:0000821 regulation of arginine metabolic process
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006865 amino acid transport
GO:0015174 basic amino acid transmembrane transporter activity
GO:0015179 L-amino acid transmembrane transporter activity
GO:0016323 basolateral plasma membrane
GO:0050900 leukocyte migration
GO:1990822 basic amino acid transmembrane transport

Diseases

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Disease IDSourceNameDescription
222700 OMIMLysinuric protein intolerance (LPI)A metabolic disorder characterized by increased renal excretion of cationic amino acid (CAA), reduced CAA absorption from intestine, and orotic aciduria. On a normal diet, LPI patients present poor feeding, vomiting, diarrhea, episodes of hyperammoniaemic coma and growth retardation. Hepatosplenomegaly, osteoporosis and a life-threatening pulmonary involvement (alveolar proteinosis) are also seen. Biochemically LPI is characterized by defective transport of dibasic amino acids at the basolateral membrane of epithelial cells in kidney and intestine. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
SLC7A7SLC3A2BioGRID9878049 details
SLC7A7NEDD4LBioGRID19664597 details
SLC7A7CITBioGRID31586073 details