Neutral and basic amino acid transport protein rBAT is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''SLC3A1''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
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. ...
.
See also
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Heterodimeric amino acid transporter
Heterodimeric amino-acid transporters are a family of transport proteins that facilitate the transport of certain amino acids across cell membrane
The cell membrane (also known as the plasma membrane (PM) or cytoplasmic membrane, and historical ...
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Solute carrier family
References
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Solute carrier family
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