GENE NAME | PCCB |
CHROMOSOME | 3 |
ENSEMBL ID | ENSG00000114054 |
ENTREZ ID | 5096 |
UNIPROT ACCESSION NUMBER | P05166 |
GO MOLECULAR FUNCTION | propionyl-CoA carboxylase activity; protein binding; ATP binding; nucleotide binding; ligase activity |
ESSENTIAL IN MOUSE | None |
PATHWAYS | hsa00280; R-HSA-3371599; R-HSA-196780; R-HSA-77289; R-HSA-3296482; hsa01100; R-HSA-556833; hsa00640; R-HSA-196854; hsa00630; R-HSA-3323169; R-HSA-1643685; R-HSA-196849; R-HSA-8978868; hsa01200; R-HSA-5668914; R-HSA-71032; R-HSA-1430728 |
1 combination linked to PCCB | OLI808 |
1 variant linked to PCCB | PCCB:p.Gly407ArgfsTer14 |
1 disease linked to PCCB | Recurrent exertional rhabdomyolysis |