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4930579E17Rik


Official Full Name
CDP-L-ribitol pyrophosphorylase A
Organism
Mus musculus
Gene ID
75847
Background
Predicted to enable D-ribitol-5-phosphate cytidylyltransferase activity and protein homodimerization activity. Acts upstream of or within axon guidance and protein glycosylation. Predicted to be active in cytosol. Is expressed in brain. Used to study autosomal recessive limb-girdle muscular dystrophy type 2U. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2U and congenital muscular dystrophy-dystroglycanopathy A7. Orthologous to human CRPPA (CDP-L-ribitol pyrophosphorylase A). [provided by Alliance of Genome Resources, Feb 2025]
Synonyms
POR1

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