GXYLT2

Chr 3

glucoside xylosyltransferase 2

Also known as: GLT8D4

NCBI Gene: 727936 ENSG00000172986 UniProt: A0PJZ3

The protein is a xylosyltransferase that catalyzes the addition of xylose to O-linked glucose residues on EGF-like repeats in the extracellular domain of Notch proteins. Mutations cause autosomal recessive muscular dystrophy-dystroglycanopathy with intellectual disability, typically presenting in early childhood with progressive muscle weakness and developmental delays. This gene is extremely intolerant to loss-of-function variants, indicating critical developmental importance.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a xylosyltransferase that elongates O-linked glucose bound to epidermal growth factor (EGF) repeats. The encoded protein catalyzes the addition of xylose to the O-glucose-modified residues of EGF repeats of Notch proteins. [provided by RefSeq, Sep 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.50

LOEUF

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Mechanism

Some data sources returned errors (1)