Anti-ARSE/ASE/ARSL Antibody Picoband®

Arylsulfatase E, also known as ARSE, is an enzyme that, in humans, is encoded by the ARSE gene. 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. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome.

Expressed in immature but not mature T-cells. Also found in CD34+ cells from peripheral blood, CD34+ precursors from umbilical cord blood and adult bone marrow.

1. Brunetti-Pierri, N., Andreucci, M. V., Tuzzi, R., Vega, G. R., 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. 117A: 164-168, 2003. 2. Daniele, A., Parenti, G., d'Addio, M., Andria, G., Ballabio, A., Meroni, G. 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. 3. Franco, B., Meroni, G., Parenti, G., Levilliers, J., Bernard, L., Gebbia, M., Cox, L., Maroteaux, P., Sheffield, L., Rappold, G. A., Andria, G., Petit, C., Ballabio, A. A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell 81: 15-25, 1995.

Store at -20°C for one year from date of receipt. After reconstitution, at 4°C for one month. It can also be aliquotted and stored frozen at -20°C for six months. Avoid repeated freeze-thaw cycles.