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Arylsulfatase E (ARSE)

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ASE; CDPX; CDPX1; Chondrodysplasia Punctata 1

Arylsulfatase E (ARSE)
CCC G612
HGNC 719
PubMed 12567415
RGD 1304917
UniProt P51690
Wiki ARSE
Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene.
It is likely that warfarin embryopathy involves drug-induced inhibition of the same enzyme. Another member of the arylsulfatase family, steroid sulfatase (STS), is deficient in X-linked ichthyosis. ARSA is deficient in metachromatic leukodystrophy; ARSB is deficient in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome).

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Arylsulfatase E (ARSE) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Arylsulfatase E (ARSE) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Arylsulfatase E (ARSE) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Arylsulfatase E (ARSE) CLIA Kit Customized Service Offer
n/a ELISA Kit for Arylsulfatase E (ARSE) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Arylsulfatase E (ARSE) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Arylsulfatase E (ARSE) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Arylsulfatase E (ARSE) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Arylsulfatase E (ARSE) CLIA Kit Customized Service Offer
n/a ELISA Kit for Arylsulfatase E (ARSE) ELISA Kit Customized Service Offer
  1. "A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy."Cell 81:15-25(1995) [PubMed] [Europe PMC] [Abstract]
  2. "Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata."Am. J. Hum. Genet. 62:562-572(1998) [PubMed] [Europe PMC] [Abstract]
  3. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
  4. "X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene."Am. J. Med. Genet. 73:139-143(1997) [PubMed] [Europe PMC] [Abstract]
  5. "X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability."Am. J. Med. Genet. A 117:164-168(2003) [PubMed] [Europe PMC] [Abstract]