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Arylsulfatase E: Wikis

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arylsulfatase E (chondrodysplasia punctata 1)
Identifiers
Symbol ARSE
Alt. symbols CDPX, CDPX1
Entrez 415
HUGO 719
OMIM 300180
RefSeq NM_000047
UniProt P51690
Other data
Locus Chr. X p22.33

Arylsulfatase E also known as ARSE is an enzyme which in humans is encoded by the ARSE gene.[1]

Function

Arylsulfatase E is a member of the arylsulfatase subfamily of sulfatase enzymes that catalyze the hydrolysis of sulfate esters. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix.[2]

Clinical significance

Deficiencies in ARSE are associated with X-linked recessive chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development.[3]

References

  1. ^ Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA (April 1995). "A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy". Cell 81 (1): 15–25. doi:10.1016/0092-8674(95)90367-4. PMID 7720070.  
  2. ^ "Entrez Gene: ARSE". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=415.  
  3. ^ Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G (March 2003). "X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability". Am. J. Med. Genet. A 117A (2): 164–8. doi:10.1002/ajmg.a.10950. PMID 12567415.  

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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