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Arylsulfatase A

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.

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Arylsulfatase A Proteins

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Arylsulfatase A ELISA Pair sets

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Arylsulfatase A Related Areas

Enzyme>>Sulfatase & Sulfotransferase>>Arylsulfatase A/ARSA

Enzyme>>Carbohydrate Metabolism Enzymes>>Arylsulfatase A/ARSA

Immunology>>Innate Immunity>>Lysosomal Enzyme>>Arylsulfatase A/ARSA

Arylsulfatase A Related Pathways

Arylsulfatase A Alternative Names

Arylsulfatase A, ARSA, MLD [Homo sapiens]

Arylsulfatase A, Arsa, AS-A, ASA, AW212749, As-2, As2, C230037L18Rik, TISP73 [Mus musculus]

Summaries for Arylsulfatase A

Entrez Gene summary for Arylsulfatase A:

The protein encoded by ARSA gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in ARSA 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 ARSA gene. [provided by RefSeq, Dec 2010]

OMIM - description for Arylsulfatase A:

The ARSA gene encodes the lysosomal enzyme arylsulfatase A.

Wikipedia summary for Arylsulfatase A:

Arylsulfatase A (or cerebroside-sulfatase) is an enzyme that breaks down cerebroside 3-sulfate into cerebroside and sulfate. In humans, arylsulfatase A is encoded by the ARSA gene.

Human Arylsulfatase A Protein General Information

 

Protein names

Arylsulfatase A , Short name=ASA

Sequence length

507 AA.

Domain

Signal

Sequence similarities:

Belongs to the sulfatase family.

Post-translational modification:

The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. This post-translational modification is severely defective in multiple sulfatase deficiency (MSD).

Cofactor

Binds 1 calcium ion per subunit.

Subunit structure

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.

Subcellular location: Lysosome.
Involvement in disease: Defects in ARSA are a cause of leukodystrophy metachromatic (MLD) [MIM:250100]. 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 adult.Arylsulfatase A activity is defective in multiple sulfatase deficiency (MSD) [MIM:272200]. 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. Note=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.
Catalytic activity: A cerebroside 3-sulfate + H2O = a cerebroside + sulfate.
Enzyme regulation: Inhibited by phosphate. The phosphate forms a covalent bond with the active site 3-oxoalanine.
Miscellaneous: The metal cofactor was first identified as magnesium ion, based on the structure of the recombinant protein, but when purified from human placenta, the protein contains 1 calcium ion per subunit.
Sequence caution: The sequence differs from that shown. Reason: Erroneous initiation.

General information above from UniProt

Function for Arylsulfatase A Protein

UniProtKB:

Arylsulfatase A hydrolyzes cerebroside sulfate.

Genatlas:

  • Arylsulfatase A hydrolyzes esters bonds in cerebrosides, sulfation of most sulfolipids
  • Arylsulfatase A plays a role in the components of the extracellular matrix and functions as a substrate on which cells adhere and form protrusions (Fujita 2010)

Homology for human Arylsulfatase A

  • ortholog to murine Arsa

Phenotype Information for Arylsulfatase A

Gene/Locus Phenotype
ARSA Metachromatic leukodystrophy

Phenotype Information for Arylsulfatase A from OMIM (Online Mendelian Inheritance in Man)

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