Anti-ARSE/ASE Antibody Picoband® Fluoro488 Conjugated

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.

A synthetic peptide corresponding to a sequence at the C-terminus of rat ARSE/ASE, which shares 77.8% amino acid (aa) sequence identity with human ARSE/ASE.

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.