Arylsulfatase L Explained

Arylsulfatase L is an enzyme that, in humans, is encoded by the ARSL gene.^[1]

Function

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

Further reading

• Stelzl U, Worm U, Lalowski M . A human protein-protein interaction network: a resource for annotating the proteome . Cell . 122 . 6 . 957–68 . 2005 . 16169070 . 10.1016/j.cell.2005.08.029 . etal. free . 11858/00-001M-0000-0010-8592-0 . free .
• Puca AA, Zollo M, Repetto M . Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSE) from the Xp22.3 region . Genomics . 42 . 2 . 192–9 . 1997 . 9192838 . 10.1006/GENO.1997.4716. etal.
• Parenti G, Buttitta P, Meroni G . X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene . Am. J. Med. Genet. . 73 . 2 . 139–43 . 1997 . 9409863 . 10.1002/(SICI)1096-8628(19971212)73:2<139::AID-AJMG7>3.0.CO;2-P . etal.
• Nino M, Matos-Miranda C, Maeda M . Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata . Am. J. Med. Genet. A . 146A . 8 . 997–1008 . 2008 . 18348268 . 10.1002/ajmg.a.32159 . 24869085 . etal. free .
• Meroni G, Franco B, Archidiacono N . Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region . Hum. Mol. Genet. . 5 . 4 . 423–31 . 1996 . 8845834 . 10.1093/hmg/5.4.423 . etal. free .
• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–4 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2001 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Urbitsch P, Salzer MJ, Hirschmann P, Vogt PH . Arylsulfatase D gene in Xp22.3 encodes two protein isoforms . DNA Cell Biol. . 19 . 12 . 765–73 . 2000 . 11177574 . 10.1089/104454900750058125 .
• Daniele A, Parenti G, d'Addio M . Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata . Am. J. Hum. Genet. . 62 . 3 . 562–72 . 1998 . 9497243 . 10.1086/301746 . 1376941 . etal.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 . etal.

Notes and References

1. Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA . A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy . Cell . 81 . 1 . 15–25 . April 1995 . 7720070 . 10.1016/0092-8674(95)90367-4 . free .
2. Web site: ARSL arylsulfatase L [Homo sapiens (human) ] ]. .
3. Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G . X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability . Am. J. Med. Genet. A . 117A . 2 . 164–8 . March 2003 . 12567415 . 10.1002/ajmg.a.10950 . 11888467 . free .