Arylsulfatase E

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Arylsulfatase E (chondrodysplasia punctata 1)
Identifiers
Symbols ARSE ; ASE; CDPX; CDPX1; CDPXR
External IDs OMIM300180 HomoloGene55428 GeneCards: ARSE Gene
EC number 3.1.6.1
Orthologs
Species Human Mouse
Entrez 415 n/a
Ensembl ENSG00000157399 n/a
UniProt P51690 n/a
RefSeq (mRNA) NM_000047 n/a
RefSeq (protein) NP_000038 n/a
Location (UCSC) Chr X:
2.85 – 2.89 Mb
n/a
PubMed search [1] n/a

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

Function[edit]

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[edit]

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

References[edit]

  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". 
  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. 

Further reading[edit]

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