P15289.3
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
Arylsulfatase A
NCBI Official Synonym Full Names
arylsulfatase A
NCBI Official Synonym Symbols
NCBI Protein Information
arylsulfatase A; ASA; cerebroside-sulfatase
UniProt Protein Name
Arylsulfatase A
UniProt Synonym Protein Names
Cerebroside-sulfataseCleaved into the following 2 chains:Arylsulfatase A component B; Arylsulfatase A component C
UniProt Synonym Gene Names
UniProt Entry Name
ARSA_HUMAN
NCBI Summary for 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. [provided by RefSeq, Dec 2010]
UniProt Comments for ARSA
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 adult. 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: Hydrolase; Lipid Metabolism - sphingolipid; EC 3.1.6.8
Chromosomal Location of Human Ortholog: 22q13.33
Cellular Component: extracellular space; lysosomal lumen; extrinsic to external side of plasma membrane; lysosome; endoplasmic reticulum lumen; acrosome; integral to membrane; endosome
Molecular Function: arylsulfatase activity; sulfuric ester hydrolase activity; calcium ion binding; cerebroside-sulfatase activity
Biological Process: sphingolipid metabolic process; response to ethanol; central nervous system development; cellular protein metabolic process; binding of sperm to zona pellucida; response to estrogen stimulus; response to methylmercury; autophagy; glycosphingolipid metabolic process; post-translational protein modification; response to nutrient; response to pH
Disease: Metachromatic Leukodystrophy
Research Articles on ARSA
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Products associated with anti-ARSA antibody
Pathways associated with anti-ARSA antibody
Diseases associated with anti-ARSA antibody
Organs/Tissues associated with anti-ARSA antibody
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