| GENE NAME | MCCC2 |
| CHROMOSOME | 5 |
| ENSEMBL ID | ENSG00000131844 |
| ENTREZ ID | 64087 |
| UNIPROT ACCESSION NUMBER | Q9HCC0 |
| GO MOLECULAR FUNCTION | protein binding; ATP binding; methylcrotonoyl-CoA carboxylase activity; nucleotide binding; ligase activity |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | R-HSA-196854; hsa01100; R-HSA-70895; R-HSA-71291; R-HSA-196780; R-HSA-3371599; R-HSA-1430728; hsa00280; R-HSA-5668914; R-HSA-3371599; R-HSA-196780; R-HSA-71291; R-HSA-70895; R-HSA-3296482; R-HSA-1643685; R-HSA-196849; hsa01100; R-HSA-3323169; R-HSA-196854; R-HSA-3323169; R-HSA-1643685; R-HSA-196849; R-HSA-3296482; R-HSA-5668914; hsa00280; R-HSA-1430728 |
| 1 combination linked to MCCC2 | OLI264 |
| 1 variant linked to MCCC2 | MCCC2:c.1015G>A, p.Val339Met |
| 1 disease linked to MCCC2 | Osteopetrosis,Mental retardation,Short stature,Spastic paraparesis |