PCCA Antibody, FITC conjugated

1. 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). The SNP c.937C>T (p.Arg313Ter), was noted in 9/36 (25%) alleles in the PCCA gene PMID: 27227689
2. Ten propionic acidemia mutations were confirmed, including 8 affecting the PCCA gene and 2 affecting the PCCB gene PMID: 25636094
3. Two PCCA mutations, c.229C-->T (p.R77W) and c.1262A-->C (p.Q421P), were identified in a PCCA-deficient patient. PMID: 24863100
4. 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. PMID: 24464666
5. Thsi study presented that Propionic acidemia(PCCA mutation) associated with visual hallucinations PMID: 22156789
6. propionyl CoA carboxylase alpha polypeptide intronic variations causing aberrantly spliced messenger RNA is associated with propionic and methylmalonic acidemia. PMID: 17966092
7. cryo-electron microscopy (cryo-EM) reconstruction at 15-A resolution PMID: 20725044
8. pathogenicity of 11 mutations by expression studies and correlation of genotype-phenotype in PCCA-deficient propionic acidemia patients. PMID: 12385775
9. 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. PMID: 12559849
10. analysis of propionyl-CoA carboxylase containing pathogenic mutations in the beta subunit (R165W, E168K, and R410W) and one PCCB polymorphism (A497V) and their structural and functional effects PMID: 15890657
11. analysis of PCCA and PCCB mutations in propionic acidemia PMID: 17051315
12. This work describes for the first time the high frequency of large genomic deletions in the PCCA gene, which could be due to the characteristics of the PCCA gene structure and its abundance in intronic repetitive elements. PMID: 19157943
13. Activities of propionyl-CoA carboxylase were not significantly different in pancreatic islets of patients with type 2 diabetes from those of the control. PMID: 19296078

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HGNC: 8653

OMIM: 232000

KEGG: hsa:5095

STRING: 9606.ENSP00000365462

UniGene: Hs.733632