Entity Details

Primary name MCCB_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9HCC0
EntryNameMCCB_HUMAN
FullNameMethylcrotonoyl-CoA carboxylase beta chain, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length563
SequenceStatuscomplete
DateCreated2002-03-05
DateModified2021-06-02

Ontological Relatives

GenesMCCC2

GO terms

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GOName
GO:0002169 3-methylcrotonyl-CoA carboxylase complex, mitochondrial
GO:0004485 methylcrotonoyl-CoA carboxylase activity
GO:0005524 ATP binding
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
GO:0006552 leucine catabolic process
GO:0006768 biotin metabolic process
GO:0009083 branched-chain amino acid catabolic process
GO:0015936 coenzyme A metabolic process
GO:1905202 methylcrotonoyl-CoA carboxylase complex

Subcellular Location

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Subcellular Location
Mitochondrion matrix

Domains

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DomainNameCategoryType
IPR011762 Acetyl-coenzyme A carboxyltransferase, N-terminalDomainDomain
IPR011763 Acetyl-coenzyme A carboxyltransferase, C-terminalDomainDomain
IPR029045 ClpP/crotonase-like domain superfamilyFamilyHomologous superfamily
IPR034733 Acetyl-CoA carboxylaseDomainDomain

Diseases

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Disease IDSourceNameDescription
210210 OMIM3-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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DrugNameSourceType
DB00121 BiotinDrugbanksmall molecule