Myogenesis-regulating glycosidase (MYORG)

Myogenesis-regulating glycosidase (MYORG) is a membrane-bound glycosidase of the glycosyl hydrolase family 31, primarily localized in the endoplasmic reticulum of astrocytes[1][2][3][4][5]. It acts as a dimeric α-galactosidase with a unique substrate specificity for Gal-α1,4-Glc motifs[1], and is predicted to hydrolyze O-glycosyl compounds important in protein quality control[1][3][4]. MYORG mutations are causative for autosomal recessive primary familial brain calcification (PFBC), a disease marked by extensive cerebral and brainstem mineralization that leads to motor and cognitive symptoms, including dysarthria and parkinsonism[2][3]. Functionally, MYORG is critical for astrocyte-regulated maintenance of the neurovascular unit and proper brain mineral homeostasis[2][3]. Experimental inhibitors such as DGJ can bind MYORG and alter its thermostability and activity[1]. No approved therapies exist for MYORG-related PFBC, and the physiological function in glycoprotein processing—while biochemically characterized—is not fully elucidated[1][2][3][4][5].

Other names

MYORGKIAA1161NET37IBGC7Uncharacterized family 31 glucosidase KIAA1161myogenesis-regulating glycosidase (putative)

Inhibition of glycosidase enzymatic activity by competitive binding to the active site (as shown with DGJ)[1]