The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. _
Applications
Suitable for use in Western Blot. Other applications not tested.
Recommended Dilution
Western Blot: 1:500-1:2000 Optimal dilutions to be determined by the researcher.
Storage and Stability
May be stored at 4°C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20°C. Aliquots are stable for 12 months after receipt. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
Immunogen
Recombinant protein corresponding to human ARSA.
Form
Supplied as a liquid in PBS, pH 7.3, 0.02% sodium azide, 50% glycerol.
Purity
Purified by affinity chromatography.
Specificity
Recognizes ARSA. Species Crossreactivity: human, mouse, rat