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Arylsulfatase L (ARSL)

Target: ARSL
Molecular classification: Enzyme, Sulfatase, Arylsulfatase subfamily

Overview

Arylsulfatase L is an enzyme, part of the sulfatase family, responsible for catalyzing the hydrolysis of sulfate esters within the Golgi apparatus. Its physiological activity is essential for maintaining the correct composition of bone and cartilage. Deficiency or dysfunction of Arylsulfatase L leads to X-linked chondrodysplasia punctata 1, a genetic skeletal disorder almost exclusively affecting males, due to the importance of sulfate processing in bone/cartilage development. No approved drugs currently target Arylsulfatase L as a therapeutic enzyme or inhibitor, and its medical importance is mainly in a genetic and diagnostic context for certain skeletal disorders[1][2].

Other names: ARSEARSE_HUMANarylsulfatase ECDPXCDPX1CDPXRMGC163310

Mechanism of action

Not applicable/known for exogenous drugs; the endogenous enzyme functions via catalytic hydrolysis of sulfate esters

Biological functions

Catalysis of hydrolysis of sulfate estersBone and cartilage matrix formationLikely involved in vitamin K–related pathways for bone growth/density

Disease associations

X-linked chondrodysplasia punctata (CDPX1, a disorder of bone and cartilage development)Other skeletal dysplasias associated with ARSL deficiency

Safety considerations

Loss-of-function mutations cause skeletal disease; no known exogenous inhibition safety data

Biomarkers

Deficiency or mutation detection for X-linked chondrodysplasia punctata 1 (CDPX1)

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