b(0,+)-type amino acid transporter 1, also known as b(0,+)AT1, is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
which in humans is encoded by the ''SLC7A9''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Function
This gene encodes a protein that belongs to a family of light subunits of
amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of
cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the
kidney tubule.
The protein associates with the protein coded for by
SLC3A1.
Clinical significance
Mutations in this gene cause non-type I
cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids.
See also
*
Heterodimeric amino acid transporter
*
Solute carrier family
The solute carrier (SLC) group of membrane transport proteins include over 400 members organized into 66 families. Most members of the SLC group are located in the cell membrane. The SLC gene nomenclature system was originally proposed by the HUGO ...
References
Solute carrier family
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