Entity Details
| Primary name |
MCCB_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q9HCC0 |
| EntryName | MCCB_HUMAN |
| FullName | Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 563 |
| SequenceStatus | complete |
| DateCreated | 2002-03-05 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Mitochondrion matrix |
Domains
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| Domain | Name | Category | Type |
| IPR011762 | Acetyl-coenzyme A carboxyltransferase, N-terminal | Domain | Domain |
| IPR011763 | Acetyl-coenzyme A carboxyltransferase, C-terminal | Domain | Domain |
| IPR029045 | ClpP/crotonase-like domain superfamily | Family | Homologous superfamily |
| IPR034733 | Acetyl-CoA carboxylase | Domain | Domain |
Diseases
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| Disease ID | Source | Name | Description |
| 210210 | OMIM | 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) | An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. The disease is caused by variants affecting the gene represented in this entry. |
Drugs
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| Drug | Name | Source | Type |
| DB00121 | Biotin | Drugbank | small molecule |
Interactions
6 interactions