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rumi - rumi

Enables EGF-domain serine glucosyltransferase activity and EGF-domain serine xylosyltransferase activity. Involved in several processes, including protein O-linked glycosylation via serine; regulation of Notch signaling pathway; and rhabdomere development. Located in endoplasmic reticulum lumen. Is expressed in adult head and organism. Used to study autosomal recessive limb-girdle muscular dystrophy. Human ortholog(s) of this gene implicated in Dowling-Degos disease and autosomal recessive limb-girdle muscular dystrophy type 2Z. Orthologous to human POGLUT1 (protein O-glucosyltransferase 1). [provided by Alliance of Genome Resources, Oct 2024]

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Species Gene Architecture aa