| Entrez Gene ID | 5096 |
|---|---|
| Official Gene Symbol | PCCB (GeneCards) |
| Full name | propionyl-CoA carboxylase subunit beta |
| Location | 3q22.3 |
| Other ids | Vega : OTTHUMG00000159792 MIM : 232050 HGNC : HGNC:8654 Ensembl : ENSG00000114054 |
| Other names | None |
| Summary | 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] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29161 | 5096 | PCCB | 3 | 136016845 | 136016845 | Autism Spectrum Disorders | PASM |