MCCC2 - methylcrotonyl-CoA carboxylase subunit 2 Gene

Homo sapiens

Also known as MCCB; MCCCbeta

Gene ID: 64087 | Gene type: protein coding

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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08219	MCCC2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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