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ARSA
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.
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Plasma cells, Late spermatids, Proximal enterocytes)
Immune cell specificity
Low immune cell specificity
Cell line specificity
Cell line enhanced (Karpas-707)
Interaction
Homodimer at neutral pH and homooctamer at acidic pH. Exists both as a single chain of 58 kDa (component A) or as a chain of 50 kDa (component B) linked by disulfide bond(s) to a 7 kDa chain (component C). Interacts with SUMF1.
Molecular function
Hydrolase
More Types Infomation
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- Derivation: Phage display library screening
- Species Reactivity: Human
- Type: Rabbit IgG
- Application: ELISA
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- Derivation: Mouse
- Species Reactivity: Human
- Type: Mouse IgG2a
- Application: WB, FC, ICC, IF, IHC
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- Species Reactivity: Human
- Type: Rabbit IgG
- Application: ELISA
-
- Species Reactivity: Human
- Type: Mouse IgG2a
- Application: WB
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For Research Use Only. Not For Clinical Use.