Sialin, also known as H(+)/nitrate cotransporter and H(+)/sialic acid cotransporter, 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 ...
which in humans is encoded by the ''SLC17A5''
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 ...
.
Clinical significance
A deficiency of this protein causes
Salla disease
Salla disease (SD) is an autosomal recessive lysosomal storage disease characterized by early physical impairment and intellectual disability. It was first described in 1979, after Salla, a municipality in Finnish Lapland. Salla disease is one of ...
.
and
Infantile Sialic Acid Storage Disease (ISSD).
The gene for
HP59
HP59 is a pathologic angiogenesis capillary endothelial marker protein (7 or 12 transmembrane domains) which has been identified as the receptor for the Group B Streptococcal Toxin (GBS Toxin) molecule known as CM101, the etiologic agent for ear ...
contains, entirely within its coding region, the Sialin Gene SLC17A5. Member 5, also known as SLC17A5 or sialin is a
lysosomal
A lysosome () is a membrane-bound organelle found in many animal Cell (biology), cells. They are spherical Vesicle (biology and chemistry), vesicles that contain Hydrolysis, hydrolytic enzymes that can break down many kinds of biomolecules. A ly ...
membrane
sialic acid Sialic acids are a class of alpha-keto acid sugars with a nine-carbon backbone.
The term "sialic acid" (from the Greek for saliva, - ''sÃalon'') was first introduced by Swedish biochemist Gunnar Blix in 1952. The most common member of this gr ...
transport protein which in humans is encoded by the SLC17A5 gene on
Chromosome 6
Chromosome 6 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 6 spans more than 170 million base pairs (the building material of DNA) and represents between 5.5 and 6% of the total ...
See also
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Solute carrier family
References
Further reading
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Solute carrier family
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