PCCB Antibody, FITC conjugated

1. Recurrent lactic acid elevations were present in six out of the eight patients. Five of the eight patients were diagnosed with Autism Spectrum Disorder, four of them had pathogenic variants in PCCB PMID: 27825584
2. 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 gene. Seventeen mutations were novel (14 in PCCA and 3 in PCCB). PMID: 27227689
3. The c.-4156_183+3713del mutation is the first known large deletion that affects the PCCB gene functions. PMID: 24863100
4. mutations affect homomeric and heteromeric assembly of Propionyl-CoA Carboxylase PMID: 11749052
5. Structure-function analysis of a range of isolated PCCB subunit mutants has elucidated the complex relationship between genotype and phenotype in propionic acidemia. PMID: 12007220
6. Work showed 15 novel PCCB gene mutations and phenotype-genotype correlations for the prediction of the metabolic outcome and for the implementation of treatments tailored to each PA patient. PMID: 12559849
7. pathogenicity of R67S, R165Q and G112D mutations in PCCB gene in propionic acidemia PMID: 12757933

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HGNC: 8654

OMIM: 232050

KEGG: hsa:5096

STRING: 9606.ENSP00000419027

UniGene: Hs.63788