| SLC3A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | SLC3A1 , ATR1, CSNU1, D2H, NBAT, RBAT, solute carrier family 3 member 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 104614 MGI: 1195264 HomoloGene: 37289 GeneCards: SLC3A1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Neutral and basic amino acid transport protein rBAT is a protein that in humans is encoded by the SLC3A1 gene. [5] [6] [7]
Mutations in the SLC3A1 gene are associated with cystinuria.
Cystinuria is an inherited autosomal recessive disease characterized by high concentrations of the amino acid cystine in the urine, leading to the formation of cystine stones in the kidneys, ureters, and bladder. It is a type of aminoaciduria. "Cystine", not "cysteine," is implicated in this disease; the former is a dimer of the latter.
Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of cystine, the oxidized dimer of the amino acid cysteine. It is a genetic disorder that follows an autosomal recessive inheritance pattern. It is a rare autosomal recessive disorder resulting from accumulation of free cystine in lysosomes, eventually leading to intracellular crystal formation throughout the body. Cystinosis is the most common cause of Fanconi syndrome in the pediatric age group. Fanconi syndrome occurs when the function of cells in renal tubules is impaired, leading to abnormal amounts of carbohydrates and amino acids in the urine, excessive urination, and low blood levels of potassium and phosphates.
Hartnup disease is an autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids. Niacin is a precursor to nicotinamide, a necessary component of NAD+.
b(0,+)-type amino acid transporter 1, also known as b(0,+)AT1, is a protein which in humans is encoded by the SLC7A9 gene.
4F2 cell-surface antigen heavy chain is a protein that in humans is encoded by the SLC3A2 gene.
Electrogenic sodium bicarbonate cotransporter 1, sodium bicarbonate cotransporter is a membrane transport protein that in humans is encoded by the SLC4A4 gene.
Urea transporter 1 is a protein that in humans is encoded by the SLC14A1 gene.
Concentrative nucleoside transporter 1 (CNT1) is a protein that in humans is encoded by the SLC28A1 gene.
Cystine/glutamate transporter is an antiporter that in humans is encoded by the SLC7A11 gene.
Potassium inwardly-rectifying channel, subfamily J, member 15, also known as KCNJ15 is a human gene, which encodes the Kir4.2 protein.
Sodium-coupled neutral amino acid transporter 2 is a protein that in humans is encoded by the SLC38A2 gene.
Neutral amino acid transporter A is a protein that in humans is encoded by the SLC1A4 gene.
Bile acid-CoA:amino acid N-acyltransferase is an enzyme that in humans is encoded by the BAAT gene.
Y+L amino acid transporter 1 is a protein that in humans is encoded by the SLC7A7 gene.
Large neutral amino acids transporter small subunit 2 is a protein that in humans is encoded by the SLC7A8 gene.
Cationic amino acid transporter 3 is a protein that in humans is encoded by the SLC7A3 gene.
Sodium-dependent neutral amino acid transporter B(0)AT1 is a protein that in humans is encoded by the SLC6A19 gene.
Iminoglycinuria is an autosomal recessive disorder of renal tubular transport affecting reabsorption of the amino acid glycine, and the imino acids proline and hydroxyproline. This results in excess urinary excretion of all three acids.
Y+L amino acid transporter 2, also known as cationic amino acid transporter, y+ system, is a protein that in humans is encoded by the SLC7A6 gene.
Asc-type amino acid transporter 1 (Asc-1) is a protein that in humans is encoded by the SLC7A10 gene.
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