Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5096
MIM: 232050
HGNC: 8654
Ensembl: ENSG00000114054
Variants:
dbSNP: 5096
ClinVar: 5096
TCGA: ENSG00000114054
COSMIC: PCCB
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37620341 | 2023 | Human forebrain organoid-based multi-omics analyses of PCCB as a schizophrenia associated gene linked to GABAergic pathways. | 1 |
| 37776842 | 2023 | A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue. | 0 |
| 37620341 | 2023 | Human forebrain organoid-based multi-omics analyses of PCCB as a schizophrenia associated gene linked to GABAergic pathways. | 1 |
| 37776842 | 2023 | A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue. | 0 |
| 33725819 | 2021 | Gene diagnosis and pedigree analysis of two Han ethnicity families with propionic acidemia in Fujian. | 1 |
| 33798502 | 2021 | Novel variants of the PCCB gene in Chinese patients with propionic acidemia. | 1 |
| 33923806 | 2021 | Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing. | 2 |
| 33725819 | 2021 | Gene diagnosis and pedigree analysis of two Han ethnicity families with propionic acidemia in Fujian. | 1 |
| 33798502 | 2021 | Novel variants of the PCCB gene in Chinese patients with propionic acidemia. | 1 |
| 33923806 | 2021 | Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing. | 2 |
| 33127324 | 2020 | Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia. | 1 |
| 33127324 | 2020 | Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia. | 1 |
| 30274917 | 2018 | Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations. | 13 |
| 30274917 | 2018 | Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations. | 13 |
| 26830710 | 2016 | Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias. | 3 |
Citation
Dessen P
PCCB (propionyl-CoA carboxylase subunit beta)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71694/pccb-(propionyl-coa-carboxylase-subunit-beta)
