MCCC2 - methylcrotonyl-CoA carboxylase subunit 2 Gene

Also Known as MCCB; MCCCbeta

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 64087

About MCCC2

Cytogenetic location: 5q13.2 Genomic coordinates (GRCh38): 5:71,587,340-71,658,706 (from NCBI)

This gene has 43 transcripts (splice variants), 1 gene allele, 204 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in prostate (RPKM 27.1), kidney (RPKM 27.0) and 25 other tissues.

Summary

This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]

MCCC2 Products (2)

mRNA	Protein	Name
NM_001363147.1	NP_001350076.1	methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform 2 precursor
NM_022132.5	NP_071415.1	methylcrotonoyl-CoA carboxylase beta chain, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
contributes to methylcrotonoyl-CoA carboxylase activity	IDA IDA: Inferred from direct assay	17360195	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17360195	GOA

Cellular Component GO Annotation	Evidence	Références	Source
part of methylcrotonoyl-CoA carboxylase complex	IDA IDA: Inferred from direct assay	17360195	GOA
part of methylcrotonoyl-CoA carboxylase complex	IPI IPI: Inferred from physical interaction	17360195	GOA
located in mitochondrial matrix	IDA IDA: Inferred from direct assay	16023992	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	11170888	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MCCC2 Protein Structure

Carboxyl_trans

0
100
200
300
400
500
563 a.a.

Protein Preferred Names	Protein Names
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial	3-methylcrotonyl-CoA carboxylase 2

MCCC2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	MCCC2	Q9HCC0	MCCC1	Homo sapiens	Q96RQ3	Anti Tag CoIP	27499296
Intra	MCCC2	Q9HCC0	CFTR	Homo sapiens	P13569	Ub Reconstruction	35156780

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	MCC2D Mcc2 Deficiency 3-Methylcrotonyl Coa Carboxylase 2 Deficiency 3-Methylcrotonylglycinuria Ii Methylcrotonylglycinuria, Type Ii 3-Methylcrotonoyl-Coa Carboxylase 2 Deficiency 3-Methylcrotonylglycinuria Type Ii Mcgii Methylcrotonylglycinuria Type Ii
3-Methylcrotonyl-Coa Carboxylase Deficiency	3-Methylcrotonylglycinuria Mcc Deficiency Methylcrotonyl-Coa Carboxylase Deficiency Bmcc Deficiency 3-Mcc Deficiency 3mcc Mccd 3mcc Deficiency Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency 3-Mcc 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency Deficiency Of Methylcrotonoyl-Coa Carboxylase 3-Methyl Crotonyl-Coa Carboxylase Deficiency 3-Methylcrotonyl Coa Carboxylase 1 Deficiency
Multiple Carboxylase Deficiency	Mcd Holocarboxylase Synthetase Deficiency
Osteopetrosis, Autosomal Recessive 8	Autosomal Recessive Osteopetrosis 8 OPTB8 Osteopetrosis, Autosomal Recessive, Type 8
Bile Acid Synthesis Defect, Congenital, 1	CBAS1 Congenital Bile Acid Synthesis Defect 1 3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency Congenital Bile Acid Synthesis Defect Type 1 Basd1 Congenital Bile Acid Synthesis Defect, Type 1 3-Alpha Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase, Deficiency Of 3beta-Hsdh Deficiency 3beta-Hydroxy-Delta-5-C27-Steroid Dehydrogenase Deficiency 3beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency Neonatal Progressive Intrahepatic Cholestasis Pfic4 Progressive Familial Intrahepatic Cholestasis Type 4 Bile Acid Synthesis Defect, Congenital, Type 1 Cholestasis, Progressive Familial Intrahepatic 4
Myasthenic Syndrome, Congenital, 1a, Slow-Channel	Congenital Myasthenic Syndrome 1a Congenital Myasthenic Syndrome 2a CMS1A Cms Iia Congenital Myasthenic Syndrome Type Iia Cms2a Myasthenic Syndrome, Congenital, Type Iia, Formerly Cms2a, Formerly Cms Iia, Formerly Congenital Myasthenic Syndrome 1a, Slow-Channel Congenital Myasthenic Syndrome 2a Slow-Channel Congenital Myasthenic Syndrome Post-Synaptic Slow-Channel Myasthenic Syndrome, Congenital, Slow-Channel Sccms Myasthenic Syndrome, Congenital, Type 1a, Slow-Channel Myasthenic Syndrome, Congenital, Postsynaptic Slow-Channel Myasthenic Syndromes, Congenital, Slow Channel
Hyperekplexia 1	HKPX1 Exaggerated Startle Reaction Sthe Stiff-Baby Syndrome Kok Disease Startle Disease, Familial Startle Reaction, Exaggerated Stiff-Man Syndrome, Congenital Stiff-Person Syndrome, Congenital Congenital Stiff-Man Syndrome Congenital Stiff-Person Syndrome Familial Startle Disease Hereditary Hyperexplexia 1 Hyperekplexia Hereditary 1 Autosomal Dominant Or Recessive Hyperekplexia Hereditary Hyperexplexia Stiff-Person Syndrome
Tyrosinemia, Type Iii	Tyrosinemia Type Iii 4-Hydroxyphenylpyruvate Dioxygenase Deficiency TYRSN3 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency Tyrosinemia Type 3 4-Alpha Hydroxyphenylpyruvate Dioxygenase Deficiency 4-Alpha Hydroxyphenylpyruvic Acid Oxidase Deficiency Tyrosinemia Due To 4-Hydroxyphenylpyruvate Dioxygenase Deficiency Tyrosinemia Due To 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency Tyrosinemia Due To Hpd Deficiency Tyrosinemia 3
Mitochondrial Dna Depletion Syndrome 3	Deoxyguanosine Kinase Deficiency Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form MTDPS3 Dguok Deficiency Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Dguok-Related Mitochondrial Dna Depletion Syndrome Hepatocerebral Mitochondrial Dna Depletion Syndrome Mtdna Depletion Syndrome, Hepatocerebral Form Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due To Dguok Deficiency Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type Mitochondrial Dna Depletion Syndrome , Type 3
Cerebral Creatine Deficiency Syndrome 2	Guanidinoacetate Methyltransferase Deficiency Gamt Deficiency Creatine Deficiency Syndrome Due To Gamt Deficiency Deficiency Of Guanidinoacetate Methyltransferase CCDS2 Guanidinoacetate Methyltransferase Deficiency Deficiency, Cerebral Creatine, Syndrome, Type 2 Language Development Disorders
Hypermethioninemia	Hepatic Methionine Adenosyltransferase Deficiency Deficiency Of Methionine Adenosyltransferase Glycine N-Methyltransferase Deficiency Met S-Adenosylhomocysteine Hydrolase Deficiency Gnmt Deficiency Mat Deficiency Methionine Adenosyltransferase Deficiency Methioninemia Deficiency Of Acetyl-Coa Acetyltransferase
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Vlcad Deficiency Very Long Chain Acyl-Coa Dehydrogenase Deficiency Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Lcad Deficiency Very Long-Chain Acyl-Coa Dehydrogenase Deficiency Long Chain Acyl-Coa Dehydrogenase Deficiency ACADVLD Acadl Deficiency Vlcadd Long-Chain Acyl-Coa Dehydrogenase Deficiency Acadvl Acyl-Coa Dehydrogenase Very Long Chain Deficiency Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency Vlcad-C Vlcad-H Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of Acyl-Coa Dehydrogenase Very Long-Chain Deficiency Acyl-Coa Dehydrogenase Long-Chain Deficiency Deficiency, Very Long Chain Acyl-Coa Dehydrogenase Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS08219	MCCC2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22628	Mccc2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29143	Mccc2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MCCC2	MGD	MGI:1925288
Canis familiaris	MCCC2	VGNC	VGNC:43071
Macaca mulatta	MCCC2	VGNC	VGNC:74677
Bos taurus	MCCC2	VGNC	VGNC:31299
Rattus norvegicus	MCCC2	RGD	RGD:1310279
Others	MCCC2	NCBI