Code
OSS00267W
$240USD
ID Tag
Rb1512-130810-WS
Immunogen
A synthetic peptide from internal region of human Sialin (SLC17A5) conjugated to an immunogenic carrier protein was used as the antigen.
Accession
Also known
Membrane glycoprotein HP59, Sodium/sialic acid cotransporter, AST, Solute carrier family 17 member 5, SLC17A5
Target
FUNCTION: Primary solute translocator for anionic substances; particularly it is a free sialic acid transporter in the lysosomes.
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.
Note=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.
SUBCELLULAR LOCATION: Lysosome membrane; Multi-pass membrane protein
Tissue specificity: Found in fetal lung and small intestine, and at lower level in fetal skin and muscle. In the adult, detected in placenta, kidney and pancreas. Abundant in the endothelial cells of tumors from ovary, colon, breast and lung, but is not detected in endothelial cells from the corresponding normal tissues.
Storage
Maintain the lyophilised/reconstituted antibodies frozen at -20°C for long term storage and refrigerated at 2-8°C for a shorter term. When reconstituting, glycerol (1:1) may be added for an additional stability. Avoid freeze and thaw cycles.
Expiry Date
12 months after reconstitution
Shipping
This item will be shipped to you at ambient temperature in a lyophilised form.
References
1. Fu C, et al. Clin. Cancer Res. 7:4182-4194(2001)
2. Verheijen F.W, et al. Nat. Genet. 23:462-465(1999)
3. Schroeder B, et al. Traffic 8:1676-1686(2007)
Limitation
For research use only
Code
OSS00267W
$240USD
Unit size
100 µl
Conjugate
Unconjugated antibody
Host
NZ white rabbit
Purity
Whole serum
Clonality
Polyclonal
Isotype
Polyclonal, whole serum
Applications
IHC, WB (confirmed by recombinant protein). A dilution of 1: 200 to 1: 2000 is recommended. The optimal dilution should be determined by the end user. Not yet tested in other applications.
Specificity
Specific for SLC17A5.
Spcs X-react.
Human. Other species not yet tested.
Format
Lyophilised
Reconstitution
Reconstitute in 100 µl of sterile water. Centrifuge to remove any insoluble material.