RXYLT1

Chr 12

ribitol xylosyltransferase 1

Also known as: HP10481, MDDGA10, TMEM5

NCBI Gene: 10329 ENSG00000118600 UniProt: Q9Y2B1

This gene encodes a glycosyltransferase that catalyzes xylose transfer to ribitol 5-phosphate in the biosynthesis of phosphorylated O-mannosyl trisaccharides on alpha-dystroglycan, which are required for binding laminin-containing extracellular proteins. Mutations cause autosomal recessive muscular dystrophy-dystroglycanopathy with congenital brain and eye anomalies, featuring cobblestone lissencephaly. The gene shows low constraint against loss-of-function variants in the population.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a type II transmembrane protein that is thought to have glycosyltransferase function. Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A10

Clinical highlights

Gene-disease validity (ClinGen)

muscle-eye-brain disease · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.93

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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