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The majority of patients had mutations in the PCCA gene (18/25). A total of 26 mutations were noted: 20 in the PCCA gene and 6 in PCCB (show PCCB Proteins) gene. Seventeen mutations were novel (14 in PCCA and 3 in PCCB (show PCCB Proteins)). The SNP c.937C>T (p.Arg313Ter), was noted in 9/36 (25%) alleles in the PCCA gene
Ten propionic acidemia mutations were confirmed, including 8 affecting the PCCA gene and 2 affecting the PCCB (show PCCB Proteins) gene
Two PCCA mutations, c.229C-->T (p.R77W) and c.1262A-->C (p.Q421P), were identified in a PCCA-deficient patient.
Mutation analysis of the PCCA gene identified homozygous c.1284+1G>A in patient 1, c.230G>A (p.R77Q) and c.1855C>T (p.R619X) in patient 2, homozygous c.2125T>C (p.S709P) in patient 3, and only one mutant allele, c.231+1G>T in patient 4.
Thsi study presented that Propionic acidemia(PCCA mutation) associated with visual hallucinations
propionyl CoA carboxylase alpha polypeptide intronic variations causing aberrantly spliced messenger RNA is associated with propionic and methylmalonic acidemia.
pathogenicity of 11 mutations by expression studies and correlation of genotype-phenotype in PCCA-deficient propionic acidemia patients.
Data reported 9 novel PCCA gene mutations and represents an extensive update of the mutational study of propionic acidemia providing important information about the worldwide distribution of PA mutations.
analysis of propionyl-CoA carboxylase containing pathogenic mutations in the beta subunit (show POLG Proteins) (R165W, E168K, and R410W) and one PCCB (show PCCB Proteins) polymorphism (A497V) and their structural and functional effects
analysis of PCCA and PCCB (show PCCB Proteins) mutations in propionic acidemia
A single intravenous injection of adeno (show ADORA2A Proteins)-associated virus 2/8 or AAVrh10 expressing PCCA into propionic academia hypomorphic mice decreased systemic propionylcarnitine and methyl citrate for up to 1.5 years.
The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.
PCCase alpha subunit
, pccA complementation group
, propanoyl-CoA:carbon dioxide ligase alpha subunit
, propionyl Coenzyme A carboxylase, alpha polypeptide
, propionyl-CoA carboxylase alpha chain, mitochondrial
, PCCase subunit alpha
, Propionyl Coenzyme A carboxylase alpha polypeptide
, propanoyl-CoA:carbon dioxide ligase subunit alpha
, propionyl-coenzyme A carboxylase, alpha polypeptide
, propionyl-COA carboxylase alpha chain, mitochondrial
, propionyl-CoA carboxylase alpha chain
, zinc finger CCCH domain-containing protein 13
, propionyl-Coenzyme A carboxylase, alpha polypeptide
, propionyl CoA-carboxylase alpha
, propionyl CoA carboxylase, alpha polypeptide