A 17 aa synthetic peptide witin 1st putative extracellualr domain (between 1-2 TM) of human silain was synthesized, conjugated to KLH, and antibodies generated in rabbits. 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.
Purity:
Highly purified
Form:
Supplied as a liquid in PBS, pH 7.2
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