Solute carrier family 13 (sodium-dependent citrate transporter), member 5 also known as the Na
+/citrate cotransporter or mIndy 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, res ...
that in humans is encoded by the SLC13A5
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 b ...
.
It is the mammalian homolog of the fly
Indy gene.
Function
SLC13A5 is a
tricarboxylate plasma transporter with a preference for
citrate
Citric acid is an organic compound with the chemical formula HOC(CO2H)(CH2CO2H)2. It is a colorless weak organic acid. It occurs naturally in citrus fruits. In biochemistry, it is an intermediate in the citric acid cycle, which occurs in the ...
.
Clinical significance
In 2014, by means of
exome sequencing
Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome (known as the exome). It consists of two steps: the first step is to select only the subs ...
it was determined that a genetic mutation of the SLC13A5 gene is the cause of a rare
citrate transporter disorder.
Mutations in SLC13A5 cause
autosomal recessive epileptic encephalopathy with seizure onset in the first days of life.
Those afflicted suffer from seizures, global developmental delay, movement disorder and hypotonia.
Reduced expression of this gene is associated with longer lifespan in many organisms, including some non-human primates. Increased expression is associated with type 2 diabetes and non-alcoholic fatty liver disease. A sugary diet upregulates the expression of the gene, and so does
Interleukin 6
Interleukin 6 (IL-6) is an interleukin that acts as both a pro-inflammatory cytokine and an anti-inflammatory myokine. In humans, it is encoded by the ''IL6'' gene.
In addition, osteoblasts secrete IL-6 to stimulate osteoclast formation. Smooth ...
signaling.
References
Further reading
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External links
* - A foundation dedicated to SLC13A5 disorders.
Solute carrier family
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