Sialic acid storage disease (SASD) are autosomal recessive neurdegenerative disorders that may present as a severa infantile form (ISSD) or a slowly progressive adult form (Salla disease) prevalent in Finland. The patients exccrete large amounts of free sialic acid in urine. A H+/anionic sugar symporter mechanism for sialinc acid and glucoronic acid is impaired in lysosomal membranes from Sall and ISSD. A new gene, termed Sialin (SLC17A5; human 495 aa, chromosome 6q14-q15) belonging to the family of anion/cation symporters (ACS) has been found to be mutated in sialic acid storage disease. Sialin is predicted to contain up to 12 TM domains with N and C-termini located in the cytoplasm. Sialin has 37%, 34%, and 16% sequence identity with BNPI/VGLUT1, NPT1 (Napi-I), and E. coli hexuronate (EcHex) transporter, respectively. Sialin is found to be expressed in many human tissues.
Applications
Suitable for use in ELISA, Western Blotting. Other applications not tested.
Western Blot: 1:1000-1:5000 for antiserum and 1-10ug/ml for affinity pure antibody using Chemiluminescence technique. Sialin is ~55-60kD protein.
ELISA: 1:10,000-50,000 for neat serum and 0.5-1ug/ml for affinity pure. Control peptide can be used to coat ELISA plates at 1ug/ml. Optimal dilutions to be determined by the researcher.
Control peptide, because of its low MW (<3kD), is not suitable for Western. It is recommeded for ELISA, dot blot, or antibody blocking experiments (use 5-10ug of control peptide per 1ug of affinity purified IgG or 1ul of antiserum) to demonstrate antibody specificity.
Storage and Stability
May be stored at 4°C for short-term only. For long-term storage and to avoid repeated freezing and thawing, aliquot and add glycerol (40-50%). Freeze at -20°C. Aliquots are stable for at least 12 months at -20°C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.
Immunogen
A 17 aa synthetic peptide witin 1st putative extracellualr domain (between 1-2 TM) of human silain was synthesized, conjugated to KLH
Form
Supplied as a liquid, neat serum, 40% glycerol.
Specificity
The peptide used has no significant sequence with mammalian BNPI/VGLUT1 or other NaPi-related (Type-1 to Type-III) transporters. Sialin from other species has not yet been cloned. Antibody crossreactivity in various species is not established.
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