Functional characterization of PCCA mutations causing propionic acidemia.

  title={Functional characterization of PCCA mutations causing propionic acidemia.},
  author={Sonia Clavero and Mar{\'i}a {\'A}ngeles Mart{\'i}nez and Bel{\'e}n P{\'e}rez and Celia P{\'e}rez-Cerd{\'a} and Magdalena Ugarte and Lourdes R Desviat},
  journal={Biochimica et biophysica acta},
  volume={1588 2},
Propionic acidemia (PA, MIM 232000 and 232050) is caused by a deficiency of mitochondrial biotin-dependent propionyl-CoA carboxylase (PCC, EC, a heteropolymeric enzyme composed of alpha and beta subunits, which are encoded by the PCCA and PCCB genes, respectively. The PCCA protein (alpha subunit) is responsible for the formation of carboxybiotin upon hydrolysis of ATP and contains a C-terminal biotin-binding domain and a biotin carboxylase domain, defined by homology with other biotin… CONTINUE READING


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