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ARSE May be essential for the correct composition of cartilage and bone matrix during development. Has no activity toward steroid sulfates. Defects in ARSE are the cause of chondrodysplasia punctata X-linked recessive type 1 (CDPX1). CDP is a clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. CDPX1 is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia. This disease can also be induced by inhibition with the drug warfarin. Belongs to the sulfatase family. Note: This description may include information from UniProtKB.
Protein type: EC 3.1.6.-; Hydrolase
Chromosomal Location of Human Ortholog: Xp22.33
Cellular Component: endoplasmic reticulum lumen; Golgi apparatus
Molecular Function: arylsulfatase activity
Biological Process: glycosphingolipid metabolic process; post-translational protein modification; skeletal development
Disease: Chondrodysplasia Punctata 1, X-linked Recessive
Reference #:  P51690 (UniProtKB)
Alt. Names/Synonyms: ARSE; Arylsulfatase E; arylsulfatase E (chondrodysplasia punctata 1); ASE; CDPX; CDPX1; CDPXR; chondrodysplasia punctata 1; MGC163310
Gene Symbols: ARSE
Molecular weight: 65,669 Da
Basal Isoelectric point: 6.48  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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