Product Name
ARSA, cDNA Clone
Full Product Name
ARSA cDNA Clone
Product Gene Name
ARSA cdna clone
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
atgggggcac cgcggtccct cctcctggcc ctggctgctg gcctggccgt tgcccgtccg cccaacatcg tgctgatctt tgccgacgac ctcggctatg gggacctggg ctgctatggg caccccagct ctaccactcc caacctggac cagctggcgg cgggagggct gcggttcaca gacttctacg tgcctgtgtc tctgtgcaca ccctctaggg ccgccctcct gaccggccgg ctcccggttc ggatgggcat gtaccctggc gtcctggtgc ccagctcccg ggggggcctg cccctggagg aggtgaccgt ggccgaagtc ctggctgccc gaggctacct cacaggaatg gccggcaagt ggcaccttgg ggtggggcct gagggggcct tcctgccccc ccatcagggc ttccatcgat ttctaggcat cccgtactcc cacgaccagg gcccctgcca gaacctgacc tgcttcccgc cggccactcc ttgcgacggt ggctgtgacc agggcctggt ccccatccca ctgttggcca acctgtccgt ggaggcgcag cccccctggc tgcccggact agaggcccgc tacatggctt tcgcccatga cctcatggcc gacgcccagc gccaggatcg ccccttcttc ctgtactatg cctctcacca cacccactac cctcagttca gtgggcagag ctttgcagag cgttcaggcc gcgggccatt tggggactcc ctgatggagc tggatgcagc tgtggggacc ctgatgacag ccatagggga cctggggctg cttgaagaga cgctggtcat cttcactgca gacaatggac ctgagaccat gcgtatgtcc cgaggcggct gctccggtct cttgcggtgt ggaaagggaa cgacctacga gggcggtgtc cgagagcctg ccttggcctt ctggccaggt catatcgctc ccggcgtgac ccacgagctg gccagctccc tggacctgct gcctaccctg gcagccctgg ctggggcccc actgcccaat gtcaccttgg atggctttga cctcagcccc ctgctgctgg gcacaggcaa gagccctcgg cagtctctct tcttctaccc gtcctaccca gacgaggtcc gtggggtttt tgctgtgcgg agtggaaagt acaaggctca cttcttcacc cagggctctg cccacagtga taccactgca gaccctgcct gccacgcctc cagctctctg actgctcatg agcccccgct gctctatgac ctgtccaagg accctggtga gaactacaac ctgctggggg gtgtggccgg ggccacccca gaggtgctgc aagccctgaa acagcttcag ctgctcaagg cccagttaga cgcagctgtg accttcggcc ccagccaggt ggcccggggc gaggaccccg ccctgcagat ctgctgtcat cctggctgca ccccccgccc agcttgctgc cattgcccag atccccatgc ctga
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of ARSA cdna clone 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.
NCBI/Uniprot data below describe general gene information for ARSA. It may not necessarily be applicable to this product.
NCBI Accession #
BC014210
[Other Products]
UniProt Secondary Accession #
Q6ICI5; Q96CJ0; B2RCA6; B7XD04; F8WCC8[Other Products]
UniProt Related Accession #
P15289[Other Products]
Molecular Weight
44,881 Da
NCBI Official Full Name
Homo sapiens arylsulfatase A, mRNA
NCBI Official Synonym Full Names
arylsulfatase A
NCBI Official Symbol
ARSA??[Similar Products]
NCBI Official Synonym Symbols
MLD
??[Similar Products]
NCBI Protein Information
arylsulfatase A
UniProt Protein Name
Arylsulfatase A
UniProt Synonym Protein Names
Cerebroside-sulfatase
Protein Family
Arylsulfatase
UniProt Gene Name
ARSA??[Similar Products]
UniProt Synonym Gene Names
ASA??[Similar Products]
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 *****. 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: Lipid Metabolism - sphingolipid; EC 3.1.6.8; Hydrolase
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
Research Articles on ARSA
1. We report three families with Arylsulphatase A partial deficit in which we can find a high recurrence of parkinsonism among the siblings.
Precautions
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Disclaimer
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