Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.

@article{RodrguezPombo1998HumanPC,
  title={Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.},
  author={Pilar Rodr{\'i}guez-Pombo and J. Hoenicka and Shigeo Muro and Bel{\'e}n P{\'e}rez and Celia P{\'e}rez-Cerd{\'a} and Eva Richard and Lourdes R Desviat and Magdalena Ugarte},
  journal={American journal of human genetics},
  year={1998},
  volume={63 2},
  pages={360-9}
}
Propionyl-CoA carboxylase (PCC) is a mitochondrial biotin-dependent enzyme composed of an equal number of alpha and beta subunits. Mutations in the PCCA (alpha subunit) or PCCB (beta subunit) gene can cause the inherited metabolic disease propionic acidemia (PA), which can be life threatening in the neonatal period. Lack of data on the genomic structure of PCCB has been a significant impediment to full characterization of PCCB mutant chromosomes. In this study, we describe the genomic… CONTINUE READING