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Protein Coding Gene : Arsb arylsulfatase B

Primary Identifier  MGI:88075 Organism  mouse, laboratory
Chromosome  13 NCBI Gene Number  11881
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables N-acetylgalactosamine-6-sulfatase activity and arylsulfatase activity. Involved in dermatan sulfate catabolic process. Acts upstream of or within anterior head development. Located in cell surface. Is active in lysosome. Is expressed in skeleton. Used to study mucopolysaccharidosis VI. Human ortholog(s) of this gene implicated in mucopolysaccharidosis VI. Orthologous to human ARSB (arylsulfatase B).
PHENOTYPE: Homozygous mutation of this gene results in development of shortened limbs and snout and a broadened head after 4 weeks of age. Mutant animals have elevated concentrations of glucosaminoglycans in the urine and irregular cartilage structure. [provided by MGI curators]
  • synonyms:
  • MGD-MRK-1406,
  • Ast-1,
  • MGI:88073,
  • As1-s,
  • arylsulfatase B temporal regulation,
  • Arsb,
  • MGD-MRK-1405,
  • As1,
  • MGD-MRK-1400,
  • MGD-MRK-1404,
  • MGD-MRK-1403,
  • arylsulfatase B complex,
  • arylsulfatase B,
  • MGI:88074,
  • MGI:1919034,
  • MGD-MRK-1399,
  • As-1s,
  • As1-t,
  • MGD-MRK-1429,
  • arylsulfatase B regulation,
  • Asr-1,
  • MGD-MRK-1434,
  • MGI:2145257,
  • As1-r,
  • 1110007C02Rik,
  • RIKEN cDNA 1110007C02 gene,
  • AI480648,
  • arylsulfatase temporal,
  • MGD-MRK-1398,
  • expressed sequence AI480648,
  • As-1t,
  • As-1r,
  • MGI:88076,
  • As-1,
  • arylsulfatase B structural,
  • MGD-MRK-1401

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Genome

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1 Involved In Mutations

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0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

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Canonical gene --> Transcripts in specific strains.

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Genes --> Homologs

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16 Pathways

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