Arylsulfatase A

Alternative Names

  • ARSA
  • Cerebroside-Sulfatase
  • Cerebroside 3-Sulfatase
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OMIM Number

607574

NCBI Gene ID

410

Uniprot ID

P15289

Length

5,420 bases

No. of Exons

9

No. of isoforms

2

Protein Name

Arylsulfatase A

Molecular Mass

53588 Da

Amino Acid Count

507

Genomic Location

22:50,622,753-50,628,172

Gene Map Locus
22q13.33

Description

The ARSA gene is located on chromosome 22q13.33 and gives instruction for making a lysosomal enzyme of 507 amino acids called arylsulfatase A. This enzyme hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in the arylsulfatase A enzyme are the cause of metachromatic leukodystrophy (MLD), a lysosomal storage disease.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000487.6:c.433C>GLebanonchr22:50627198Likely PathogenicPathogenicMetachromatic LeukodystrophyNG_009260.2:g.5982C>G; NM_000487.6:c.433C>G; NP_000478.3:p.Arg145Gly19947637368133
NM_001085427.2:c.1114C>TPalestineNC_000022.11:g.50625675G>ALikely Pathogenic, PathogenicPathogenicMetachromatic LeukodystrophyNG_009260.2:g.6132C>G ; NM_001085427.2:c.1114C>T; NP_001078896.2:p.Arg372Trp743154763081
NM_001085427.2:c.263G>APalestineNC_000022.11:g.50627368C>TPathogenicPathogenicMetachromatic LeukodystrophyNG_009260.2:g.5812G>A; NM_001085427.2:c.263G>A; NP_001078896.2:p.Gly88Asp743154603061
NM_001085427.2:c.292_293delTCinsCTPalestineNC_000022.11:g.50627338_50627339delinsAGLikely PathogenicPathogenicMetachromatic LeukodystrophyNG_009260.2:g.5841_5842delTCinsCT ; NM_001085427.2:c.292_293delTCinsCT; NP_001078896.2:p.Ser98Leu1994763713062
NM_001085427.2:c.465+1G>APalestineNC_000022.11:g.50627165C>TPathogenicPathogenicMetachromatic LeukodystrophyNG_009260.2:g.6015G>A ; NM_001085427.2:c.465+1G>A; NP_001078896.2:p.?803388153051
NM_001085427.2:c.470C>GBahrain; LebanonNC_000022.11:g.50627048G>CPathogenic, Uncertain SignificancePathogenicMetachromatic LeukodystrophyNM_001085427.2:c.470C>G; NP_001078896.2:p.Pro157Arg743154643067
NM_001085427.2:c.576G>CPalestineNC_000022.11:g.50626942C>GPathogenicMetachromatic LeukodystrophyNG_009260.2:g.6238G>C; NM_001085427.2:c.576G>C; NP_001078896.2:p.Gln192His19947637268141
NM_001085427.2:c.585G>TPalestineNC_000022.11:g.50626933C>ABenignNG_009260.2:g.6247G>T; NM_001085427.2:c.585G>T ; NP_001078896.2:p.Trp195Cys615141593125
NM_001085427.2:c.827C>TLebanon; PalestineNC_000022.11:g.50626618G>ALikely Pathogenic, PathogenicPathogenicMetachromatic LeukodystrophyNG_009260.2:g.6562C>T ; NM_001085427.2:c.827C>T; NP_001078896.2:p.Thr276Met743154723075
NM_001085427.2:c.890C>ASaudi ArabiaNC_000022.11:g.50626243G>TPathogenicPathogenicMetachromatic LeukodystrophyNG_009260.2:g.6937C>A; NM_001085427.2:c.890C>A ; NP_001078896.2:p.Ser297Tyr743154743078

Other Reports

Yemen

A study by Schaap et al. (1981) described a pseudodeficiency allele at the arylsulfatase A locus rendering asymptomatic persons with levels of arylsulfatase A that are within the range usually found in metachromatic leukodystrophy (MLD) patients. 

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