Species Human Entrez 415 | Human Mouse Ensembl ENSG00000157399 | |
Aliases ARSE, ASE, CDPX, CDPX1, CDPXR, arylsulfatase E (chondrodysplasia punctata 1) External IDs HomoloGene: 55428 GeneCards: ARSE | ||
Arylsulfatase E, also known as ARSE, is an enzyme that, in humans, is encoded by the ARSE gene.
Contents
Function
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.
Clinical significance
Deficiencies in ARSE are associated with X-linked recessive chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development.
References
Arylsulfatase E Wikipedia(Text) CC BY-SA