Arylsulfatase B

Alternative Names

  • ARSB
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OMIM Number

611542

NCBI Gene ID

411

Uniprot ID

P15848

Length

208,879 bases

No. of Exons

15

No. of isoforms

2

Protein Name

Arylsulfatase B

Molecular Mass

59687 Da

Amino Acid Count

533

Genomic Location

chr5:78,777,208-78,986,086

Gene Map Locus
5q14.1

Description

Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targeted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000046.5:c.1079T>CSaudi ArabiaNC_000005.10:g.78885647A>GLikely PathogenicLikely PathogenicMucopolysaccharidosis Type VING_007089.1:g.105888T>C; NM_000046.5:c.1079T>C; NP_000037.2:p.Leu360Pro1554079284559672
NM_000046.5:c.475C>TUnited Arab EmiratesNC_000005.10:g.78969030G>AUncertain SignificanceLikely BenignNG_007089.1:g.22505C>T; NM_000046.5:c.475C>T; NP_000037.2:p.Arg159Cys2021342301195895
NM_000046.5:c.753C>GSaudi ArabiaNC_000005.10:g.78955440G>CPathogenicPathogenicMucopolysaccharidosis Type VING_007089.1:g.36095C>G; NM_000046.5:c.753C>G; NP_000037.2:p.Tyr251Ter765711776488822
NM_000046.5:c.944G>ASudanNC_000005.10:g.78885782C>TLikely Pathogenic, PathogenicPathogenicMucopolysaccharidosis Type VING_007089.1:g.105753G>A; NM_000046.5:c.944G>A; NP_000037.2:p.Arg315Gln727503809166694
NM_000046.5:c.979C>TUnited Arab EmiratesNC_000005.10:g.78885747G>APathogenicPathogenicMucopolysaccharidosis Type VING_007089.1:g.105788C>T; NM_000046.5:c.979C>T; NP_000037.2:p.Arg327Ter773492223559832
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