CDP-L-Ribitol Pyrophosphorylase A is an enzyme encoded by CRPPA gene.
Gene CRPPA is located on the short arm (p) of chromosome 7 on position 21.2, from base pair 16,087,525 to base pair 16,502,504.
Function This enzyme is located in the cytoplasm, which synthesises CDP-ribitiol from CTP and Ribitol-5-P. CDP-ribitiol is used by FKRP and FKTN to glycosylate alpha-dystroglycan.
Clinical significance Mutations in this gene can cause Limb-girdle muscular dystrophy, Muscle-eye-brain disease and Walker-Warburg syndrome.
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