Article
Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase.
Biochimica et biophysica acta - 10 Jun 2005
Rodríguez-Pombo Pilar, Pérez-Cerdá Celia, Pérez Belén, Desviat Lourdes R, Sánchez-Pulido Luis, Ugarte Magdalena
Abstract excerpt
Mutations in the PCCA or PCCB genes coding for alpha and beta subunits of propionyl CoA carboxylase can cause propionic acidemia. To understand the molecular basis of the intragenic complementation previously reported at the PCCB locus, we now examine the complementation behaviour of four carboxy-terminal and 11 amino-terminal naturally occurring mutant alleles both using cell fusion and reconstructing the...
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