Rabbit solute carrier family 17 (anion/sugar transporter), member 5 Polyclonal Antibody | anti-SLC17A5 antibody
Rabbit anti-human solute carrier family 17 (anion/sugar transporter), member 5 polyclonal Antibody
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]
Uniprot Description
SLC17A5: Primary solute translocator for anionic substances; particularly it is a free sialic acid transporter in the lysosomes (Probable). Defects in SLC17A5 are the cause of Salla disease (SD); also known as Finnish type sialuria. SD is a sialic acid storage disease (SASD). SASDs are autosomal recessive neurodegenerative disorders characterized by hypotonia, cerebellar ataxia and mental retardation. They are caused by a defect in the metabolism of sialic acid which results in increased urinary excretion of unconjugated sialic acid, specifically N- acetylneuraminic acid. Enlarged lysosomes are seen on electron microscopic studies. Clinical symptoms of SD present usually at age less than 1 year and progression is slow. Defects in SLC17A5 are the cause of infantile sialic acid storage disorder (ISSD); also known as N- acetylneuraminic acid storage disease (NSD). ISSD is a severe form of sialic acid storage disease. Affected newborns exhibit visceromegaly, coarse features and failure to thrive immediately after birth. These patients have a shortened life span, usually less than 2 years. Infantile sialic acid storage disorder is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end- stage of a wide variety of disorders. Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, multi-pass; Vesicle; Transporter, SLC family; Membrane protein, integral; Transporter
Chromosomal Location of Human Ortholog: 6q13
Cellular Component: synaptic vesicle membrane; membrane; integral to plasma membrane; lysosomal membrane; cytoplasm; plasma membrane; cell junction
Molecular Function: sialic acid transmembrane transporter activity; sugar:hydrogen ion symporter activity
Biological Process: proton transport; cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; sialic acid transport; amino acid transport; ion transport; protein amino acid N-linked glycosylation via asparagine; post-translational protein modification; transmembrane transport; anion transport
Disease: Salla Disease; Infantile Sialic Acid Storage Disease
Research Articles on SLC17A5
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Product Notes
The SLC17A5 slc17a5 (Catalog #AAA714700) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The Rabbit anti-human solute carrier family 17 (anion/sugar transporter), member 5 polyclonal Antibody reacts with Human, Mouse, Rat and may cross-react with other species as described in the data sheet. AAA Biotech's solute carrier family 17 (anion/sugar transporter), member 5 can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA), Western Blot (WB). Researchers should empirically determine the suitability of the SLC17A5 slc17a5 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "solute carrier family 17 (anion/sugar transporter), member 5, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
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