ARSE

(redirected from chondrodysplasia punctata 1)
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ARSE

A gene on chromosome Xp22.3 that encodes arylsulfatase E, which is glycosylated post-translationally, localised to the Golgi apparatus and required for the correct composition of bone and cartilage matrix.
 
Molecular pathology
Defects in ARSE cause chondrodysplasia punctata X-linked recessive type 1.
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