Biochemical characterization of mutant propionyl CoA carboxylases from two minor genetic complementation groups

Barry Wolf*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

Abstract

We have biochemically characterized several parameters of propionyl CoA carboxylase (PCC) activity in fibroblast extracts from PCC-deficient patients belonging to the two minor genetic complementation groups, pcc B and pcc BC. Comparison of PCCs from these groups with those of the two major complementation groups, pcc A and pcc C, has demonstrated that PCCs from both the pcc B and pcc BC groups closely resemble each other as well as PCC from the pcc C group. These results further support the hypothesis that the pcc B and pcc BC lines are interallelic with respect to pcc C and consequently that the structural mutations in the PCCs from these groups involve the same subunit.

Original languageEnglish (US)
Pages (from-to)703-707
Number of pages5
JournalBiochemical Genetics
Volume17
Issue number7-8
DOIs
StatePublished - Aug 1979

Keywords

  • genetic complementation
  • propionic acidemia
  • propionyl CoA carboxylase deficiency

ASJC Scopus subject areas

  • Genetics
  • Ecology, Evolution, Behavior and Systematics
  • Molecular Biology
  • Biochemistry

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