PCCB Chromosome 3
Propionyl-CoA carboxylase subunit beta
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What This Gene Does
The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
Gene Info
Gene Group
Propionyl-CoA carboxylase subunits
Locus Type
gene with protein product
Location
3q22.3
Ensembl
ENSG00000114054
Associated Conditions (13)
Propionic acidemia
PCCB-related disorder
Thyroid cancer
nonmedullary
1
Familial cancer of breast
Uterine corpus endometrial carcinoma
Hypertrophic cardiomyopathy
Hyperammonemia
Global developmental delay
Inborn genetic diseases
Nonpapillary renal cell carcinoma
Abnormality of metabolism/homeostasis
Key Variants
RS1011978513
Conflicting classifications of pathogenicity
Propionic acidemia, PCCB-related disorder, Propionic acidemia
Health Risk
RS1052979420
Conflicting classifications of pathogenicity
Propionic acidemia, Propionic acidemia
Health Risk
RS138246328
Conflicting classifications of pathogenicity
Propionic acidemia, PCCB-related disorder, Propionic acidemia
Health Risk
RS140636870
Conflicting classifications of pathogenicity
Propionic acidemia, Propionic acidemia
Health Risk
RS141340198
Conflicting classifications of pathogenicity
Propionic acidemia, Propionic acidemia
Health Risk
RS141615209
Conflicting classifications of pathogenicity
Propionic acidemia, Propionic acidemia
Health Risk
RS142730126
Conflicting classifications of pathogenicity
Propionic acidemia, Thyroid cancer, nonmedullary
Health Risk
RS142982097
Conflicting classifications of pathogenicity
Propionic acidemia, Propionic acidemia, Propionic acidemia
Health Risk
RS144907014
Conflicting classifications of pathogenicity
Propionic acidemia, Propionic acidemia
Health Risk
RS145057852
Conflicting classifications of pathogenicity
Propionic acidemia, PCCB-related disorder, Propionic acidemia
Health Risk
RS145135400
Conflicting classifications of pathogenicity
Propionic acidemia, Hypertrophic cardiomyopathy, Propionic acidemia
Health Risk
RS145628302
Conflicting classifications of pathogenicity
Propionic acidemia, Hyperammonemia, Global developmental delay
Health Risk
All Variants (261)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS397507445 | Health Risk | Pathogenic/Likely pathogenic | Propionic acidemia, Inborn genetic diseases, PCCB-related disorder |
| RS398123464 | Health Risk | Pathogenic/Likely pathogenic | Propionic acidemia, Propionic acidemia |
| RS746102997 | Health Risk | Pathogenic/Likely pathogenic | Propionic acidemia, Propionic acidemia |
| RS749509618 | Health Risk | Pathogenic/Likely pathogenic | Propionic acidemia, PCCB-related disorder, Propionic acidemia |
| RS753037539 | Health Risk | Pathogenic/Likely pathogenic | Propionic acidemia, Propionic acidemia |
| RS764697873 | Health Risk | Pathogenic/Likely pathogenic | Propionic acidemia, Propionic acidemia |
| RS769521436 | Health Risk | Pathogenic/Likely pathogenic | Propionic acidemia, Propionic acidemia |
| RS775583360 | Health Risk | Pathogenic/Likely pathogenic | Propionic acidemia, Propionic acidemia |
| RS778742647 | Health Risk | Pathogenic/Likely pathogenic | Propionic acidemia, Propionic acidemia |
| RS879253814 | Health Risk | Pathogenic/Likely pathogenic | Propionic acidemia, Propionic acidemia |
| RS886044246 | Health Risk | Pathogenic/Likely pathogenic | Propionic acidemia, Propionic acidemia |