SLC7A9
Encyclopedia
Solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 also known as SLC7A9 is a protein
which in humans is encoded by the SLC7A9 gene
.
s. 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
.
, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
which in humans is encoded by the SLC7A9 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
This gene encodes a protein that belongs to a family of light subunits of amino acid transporterAmino acid transporter
An amino acid transporter is a membrane transport protein that transports amino acids. They are mainly of the solute carrier family.-Solute carrier family examples:* high affinity glutamate and neutral amino acid transporter...
s. This protein plays a role in the high-affinity and sodium-independent transport of cystine
Cystine
Cystine is a dimeric amino acid formed by the oxidation of two cysteine residues that covalently link to make a disulfide bond. This organosulfur compound has the formula 2. It is a white solid, and melts at 247-249 °C...
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
SLC3A1
SLC3A1 is a protein associated with cystinuria.Neutral and basic amino acid transport protein rBAT is a protein that in humans is encoded by the SLC3A1 gene.-Further reading:...
.
Clinical significance
Mutations in this gene cause non-type I cystinuriaCystinuria
Cystinuria is an inherited autosomal recessive disease that is characterized by the formation of cystine stones in the kidneys, ureter, and bladder.-Signs and symptoms:Cystinuria is a cause of persistent kidney stones...
, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids.