| SLC17A5 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | SLC17A5 , AST, ISSD, NSD, SD, SIALIN, SIASD, SLD, solute carrier family 17 member 5 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 604322 MGI: 1924105 HomoloGene: 56571 GeneCards: SLC17A5 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Sialin, also known as H(+)/nitrate cotransporter and H(+)/sialic acid cotransporter, is a protein which in humans is encoded by the SLC17A5 gene. [5] [6] [7]
A deficiency of this protein causes Salla disease. [7] [8] and Infantile Sialic Acid Storage Disease (ISSD).
The gene for HP59 contains, entirely within its coding region, the Sialin Gene SLC17A5. Member 5, also known as SLC17A5 or sialin is a lysosomal membrane sialic acid transport protein which in humans is encoded by the SLC17A5 gene on Chromosome 6 [9] [10] [11]
Lysosomal storage diseases are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling. This process requires several critical enzymes. If one of these enzymes is defective due to a mutation, the large molecules accumulate within the cell, eventually killing it.
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 and is one of 40 Finnish heritage diseases.
Excitatory amino-acid transporter 4 (EAAT4) is a protein that in humans is encoded by the SLC1A6 gene.
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase is an enzyme that in humans is encoded by the AGA gene.
Cathepsin A is an enzyme that is classified both as a cathepsin and a carboxypeptidase. In humans, it is encoded by the CTSA gene.
Lysosomal-associated membrane protein 1 (LAMP-1) also known as lysosome-associated membrane glycoprotein 1 and CD107a, is a protein that in humans is encoded by the LAMP1 gene. The human LAMP1 gene is located on the long arm (q) of chromosome 13 at region 3, band 4 (13q34).
CTNS may also refer to the Center for Theology and the Natural Sciences.
Ceroid-lipofuscinosis neuronal protein 6 is a protein that in humans is encoded by the CLN6 gene.
Ceroid-lipofuscinosis neuronal protein 5 is a protein that in humans is encoded by the CLN5 gene.
Paired box protein Pax-1 is a protein that in humans is encoded by the PAX1 gene.
Solute carrier family 26 member 6 is a protein that in humans is encoded by the SLC26A6 gene. It is an anion-exchanger expressed in the apical membrane of the kidney proximal tubule, the apical membranes of the duct cells in the pancreas, and the villi of the duodenum.
Y+L amino acid transporter 1 is a protein that in humans is encoded by the SLC7A7 gene.
Sodium- and chloride-dependent glycine transporter 2, also known as glycine transporter 2 (GlyT2), is a protein that in humans is encoded by the SLC6A5 gene.
CMP-sialic acid transporter is a protein that in humans is encoded by the SLC35A1 gene.
Vesicular inhibitory amino acid transporter is a protein that in humans is encoded by the SLC32A1 gene.
Sialidase-1, is a mammalian lysosomal neuraminidase enzyme which in humans is encoded by the NEU1 gene.
Solute carrier family 22 member 7 is a protein that in humans is encoded by the gene SLC22A7.
Infantile free sialic acid storage disease (ISSD) is a lysosomal storage disease. ISSD occurs when sialic acid is unable to be transported out of the lysosomal membrane and instead accumulates in the tissue, causing free sialic acid to be excreted in the urine. Mutations in the SLC17A5 gene cause all forms of sialic acid storage disease. The SLC17A5 gene is located on the long (q) arm of chromosome 6 between positions 14 and 15. This gene provides instructions for producing a protein called sialin that is located mainly on the membranes of lysosomes, compartments in the cell that digest and recycle materials.
HP59 is a pathologic angiogenesis capillary endothelial marker protein which has been identified as the receptor for the Group B Streptococcal Toxin molecule known as CM101, the etiologic agent for early-onset versus late-onset Group B Strep.
Solute carrier family 17, member 3 is a protein that in humans is encoded by the SLC17A3 gene.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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