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Alternatively spliced transcript variants of this gene have been reported| but their full length nature has not been determined

in cholesterol biosynthesis

Mutations in this gene are associated with slow-channel congenital myasthenic syndrome

and may induce cell death in myeloid leukemias

S6A19 Polyclonal Antibody, 100ul Virus Packaging Defend your precious RNA withThis gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene result in Hartnup disorder.