MCCC2

Methylcrotonoyl-CoA carboxylase subunit beta is an enzyme that in humans is encoded by the MCCC2 gene.^[5]

MCCC2
Identifiers
Aliases	MCCC2, MCCB, methylcrotonoyl-CoA carboxylase 2, MCCCbeta, methylcrotonyl-CoA carboxylase subunit 2
External IDs	OMIM: 609014; MGI: 1925288; HomoloGene: 11145; GeneCards: MCCC2; OMA:MCCC2 - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q13.2 Start 71,579,531 bp[1] End 71,658,706 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13|13 D1 Start 100,085,038 bp[2] End 100,152,147 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in myocardium of left ventricle right adrenal cortex secondary oocyte right lobe of liver left adrenal gland right ventricle rectum left adrenal cortex apex of heart corpus epididymis Top expressed in proximal tubule right kidney interventricular septum medullary collecting duct brown adipose tissue myocardium of ventricle left lobe of liver renal corpuscle parotid gland blastocyst More reference expression data BioGPS n/a
Gene ontology Molecular function nucleotide binding methylcrotonoyl-CoA carboxylase activity ligase activity protein binding ATP binding Cellular component cytosol mitochondrion methylcrotonoyl-CoA carboxylase complex 3-methylcrotonyl-CoA carboxylase complex, mitochondrial mitochondrial matrix Biological process leucine catabolic process biotin metabolic process coenzyme A metabolic process protein heterooligomerization branched-chain amino acid catabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64087 78038 Ensembl ENSG00000131844 ENSG00000281742 ENSG00000275300 ENSMUSG00000021646 UniProt Q9HCC0 Q3ULD5 RefSeq (mRNA) NM_022132 NM_001363147 NM_030026 RefSeq (protein) NP_071415 NP_001350076 NP_084302 Location (UCSC) Chr 5: 71.58 – 71.66 Mb Chr 13: 100.09 – 100.15 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

MCCC2 encodes the β-subunit of the mitochondrial enzyme methylcrotonoyl-CoA carboxylase (MCC), which catalyzes the biotin-dependent carboxylation of 3-methylcrotonoyl-CoA to 3-methylglutaconyl-CoA in the catabolic pathway of the branched-chain amino acid leucine. The β-subunit encoded by MCCC2 contains the carboxyltransferase domain that forms active sites at the interface of β-subunit dimers within the MCC α6β6 holoenzyme.^[6]

Clinical significance

Pathogenic variants in MCCC2 cause 3-methylcrotonyl-CoA carboxylase deficiency, an autosomal recessive inborn error of leucine metabolism that can manifest with metabolic acidosis, developmental delay, or remain clinically asymptomatic.^{[7][8][9][10]} Beyond its metabolic role, MCCC2 has been implicated in tumorigenesis through modulation of mitochondrial dynamics, apoptosis, and energy metabolism, promoting cell proliferation and migration in prostate and colorectal cancers^[11] via pathways such as GLUD1–p38 MAPK signaling.^[12]