Protein O-mannose kinase is an enzyme encoded by POMK gene.
Gene POMK is located on the short arm (p) of chromosome 8 on position 11.21, from base pair 43,093,498 to base pair 43,131,180.
Function
This enzyme is located in the ER, and phosphorylates mannose on M3 core of 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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