ARSA, MLD

For Research Use Only. Not for use in diagnostic procedures.

Human Cells

> 97 % as determined by SDS-PAGE

Lyophilized from sterile 25mM Tris, 0.15mM NaCl, pH 7.5

Samples are stable for up to twelve months from date of receipt at -70 degree C

Manufactured in an ISO 9001:2015 Certified Laboratory.

Small volumes of ARSA recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Background: Arylsulfatase A (ARSA) is synthesized as a 52KDa lysosomal enzyme. It is a member of the sulfatase family that is required for the lysosomal degradation of cerebroside-3-sulfate, a sphingolipid sulfate ester and a major constituent of the myelin sheet. Arylsulfatase A is activated by a required co- or posttranslational modification with the oxidation of cysteine to formylglycine. Metachromatic leukodystrophy (MLD) is a lysosomal storage disease in the central and peripheral nervous systems with severe and progressive neurological symptoms caused by the deficiency of Arylsulfatase A. Deficiency of this enzyme is also found in apparently healthy individuals, a condition for which the term pseudodeficiency is introduced. ARSA forms dimers after receiving three N-linked oligosaccharides in the endoplasmic reticulum, and then the dimers are transported to the Golgi where they receive mannose 6-phosphate recognition markers. And thus, ARSA is transported and delivered to dense lysosomes in a mannose 6-phosphate receptor-dependent manner. It has been shown that within the lysosomes, the ARSA dimers can oligomerize to an octamer in a pH-dependent manner. The ARSA deficiency leads to metachromatic leucodystrophy (MLD), a lysosomal storage disorder associated with severe and progressive demyelination in he central and peripheral nervous system. Additionally, the serum level of arylsulfatase A might be helpful in diagnosis of lung and central nervous system cancer.

Description: A DNA sequence encoding the human Arylsulfatase A (NP_000478.2) (Met 1-Ala 507) was expressed with a C-terminal polyhistidine tag.

The recombinant human ARSA consists of 500 amino acids and predicts a molecular mass of 53 kDa. as estimated by SDS-PAGE under reducing conditions.

44,881 Da

arylsulfatase A

arylsulfatase A

Arylsulfatase A

ASA??[Similar Products]

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. [provided by RefSeq, Dec 2010]

ARSA: Hydrolyzes cerebroside sulfate. Defects in ARSA are a cause of leukodystrophy metachromatic (MLD). MLD is a disease due to a lysosomal storage defect. It is characterized by intralysosomal storage of cerebroside-3-sulfate in neural and non-neural tissues, with a diffuse loss of myelin in the central nervous system. Progressive demyelination causes a variety of neurological symptoms, including gait disturbances, ataxias, optical atrophy, dementia, seizures, and spastic tetraparesis. Three forms of the disease can be distinguished according to the age at onset: late- infantile, juvenile and *****. Arylsulfatase A activity is defective in multiple sulfatase deficiency (MSD). A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. Arylsulfatase A activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1. SUMF1 mutations result in defective post-translational modification of ARSA at residue Cys- 69 that is not converted to 3-oxoalanine. Belongs to the sulfatase family.

Protein type: EC 3.1.6.8; Hydrolase; Lipid Metabolism - sphingolipid

Chromosomal Location of Human Ortholog: 22q13.33

Cellular Component: endoplasmic reticulum lumen; lysosomal lumen; lysosome

Molecular Function: arylsulfatase activity; calcium ion binding; cerebroside-sulfatase activity; protein binding; sulfuric ester hydrolase activity

Biological Process: glycosphingolipid metabolic process; post-translational protein modification

Disease: Metachromatic Leukodystrophy

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