MCCC2 Gene
protein-coding GIFtS: 63
GCID: GC05P070918
|
|
methylcrotonoyl-CoA carboxylase 2 (beta)(Previous name: methylcrotonoyl-Coenzyme A carboxylase 2 (beta) )
| |
Aliases
for MCCC2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Methylcrotonoyl-CoA Carboxylase 2 (Beta)1 2 | | MCCase Subunit Beta2 3 | | MCCB1 2 3 5 | | EC 6.4.1.43 8 | | Methylcrotonoyl-Coenzyme A Carboxylase 2 (Beta)1 2 | | Biotin Carboxylase2 | | 3-Methylcrotonyl-CoA Carboxylase 22 3 | | Methylcrotonoyl-CoA Carboxylase Beta Chain, Mitochondrial2 | | 3-Methylcrotonyl-CoA Carboxylase Non-Biotin-Containing Subunit2 3 | | Non-Biotin Containing Subunit Of 3-Methylcrotonyl-CoA Carboxylase2 | | 3-Methylcrotonyl-CoA:Carbon Dioxide Ligase Subunit Beta2 3 | | |
Export aliases for MCCC2 gene to outside databasesPrevious GC identifers: GC05P069689 GC05P071116 GC05P070921 GC05P070967 GC05P066088 |
Summaries
for MCCC2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for MCCC2:
This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer andcatalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene areassociated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. (provided byRefSeq, Jul 2008)
|
Genomic Views
for MCCC2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000005.9 NC_018916.1 NT_006713.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the MCCC2 gene promoter:
TBP USF1 p53 Gfi-1 MEF-2A TFIID USF-1 aMEF-2 NF-Y CBF(2)
Other transcription factors
Search SABiosciences Chromatin IP Primers for MCCC2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MCCC2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 5q12-q13 Ensembl cytogenetic band: 5q13.2 HGNC cytogenetic band: 5q12-q13MCCC2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 5 GeneLoc Exon Structure GeneLoc location for GC05P070918: view genomic region
(about GC identifiers)
Start:
|
70,883,115 bp from pter |
End:
|
70,954,531 bp from pter |
Size:
|
71,417 bases |
Orientation:
|
plus strand |
|
Proteins
for MCCC2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: MCCB_HUMAN, Q9HCC0 (See
protein sequence)Recommended Name: Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial precursor Size: 563 amino acids; 61333 Da
Subunit: Probably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits
Subcellular location: Mitochondrion matrix
Sequence caution: Sequence=AAH14897.1; Type=Frameshift; Positions=359;
Secondary accessions: A6NIY9 Q96C27 Q9Y4L7Alternative splicing: 2 isoforms: Q9HCC0-1 Q9HCC0-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for MCCC2: NX_Q9HCC0
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9HCC0
4/8 DME Specific Peptides for MCCC2 (Q9HCC0) (see all 8)
MCCC2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_071415.1
ENSEMBL proteins: ENSP00000423202 ENSP00000343657 ENSP00000420994 ENSP00000425474 ENSP00000327308 Reactome Protein details: Q9HCC0
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
MCCC2 for ontologies About GeneDecksing
MCCC2 Antibody Products:
Assay Products for MCCC2: |
Protein
Domains /
Families
for MCCC2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MCCC2 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9HCC0ProtoNet protein and cluster: Q9HCC0 1 Blocks protein family: IPB000022 Carboxyl transferase family
UniProtKB/Swiss-Prot: MCCB_HUMAN, Q9HCC0Similarity: Belongs to the AccD/PCCB familySimilarity: Contains 1 carboxyltransferase domain |
Function
for MCCC2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: MCCB_HUMAN, Q9HCC0Catalytic activity: ATP + 3-methylcrotonoyl-CoA + HCO(3)(-) = ADP + phosphate + 3-methylglutaconyl-CoAEnzyme Number (IUBMB): EC 6.4.1.41 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MCCC2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MCCC2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: MCCC2 (NM_022132) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MCCC2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCCC2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCCC2 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
MCCC2 for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for MCCC2:
|
Pathways & Interactions
for MCCC2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Branched-chain amino acid catabolism | | | 2 | Metabolism | | | 3 | Metabolism of amino acids and derivatives | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1  BioSystems Pathway for MCCC2
3 
Reactome Pathways for MCCC2
2 
Kegg Pathways (Kegg details for MCCC2):
UniProtKB/Swiss-Prot: MCCB_HUMAN, Q9HCC0Pathway: Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step2/3
MCCC2 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MCCC2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 17)
5/261 Interacting proteins for MCCC2 (Q9HCC02, 3 ENSP000003436574) via UniProtKB, MINT, STRING, and/or I2D (see all 261)
About this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006552 | leucine catabolic process |
TAS | 11170888 | | GO:0009083 | branched-chain amino acid catabolic process |
TAS | -- | | GO:0015936 | coenzyme A metabolic process |
IEA | -- | | GO:0034641 | cellular nitrogen compound metabolic process |
TAS | -- | | GO:0044281 | small molecule metabolic process |
TAS | -- |
MCCC2 for ontologies About GeneDecksing
|
Drugs & Compounds
for MCCC2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for MCCC2
8 HMDB Compounds for MCCC2 About this table
1 DrugBank Compound for MCCC2 About this table
Search CenterWatch for drugs/clinical trials and news about MCCC2 / MCCB
|
Transcripts
for MCCC2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for MCCC2 gene: NM_022132.4 Unigene Cluster for MCCC2: Methylcrotonoyl-CoA carboxylase 2 (beta) Hs.604789 [show with all ESTs]Unigene Representative Sequence: NM_0221329 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000512218 ENST00000340941(uc003kbs.4 uc003kbt.4) ENST00000509358(uc010iyv.1)
ENST00000507169 ENST00000505787 ENST00000510895(uc003kbu.1) ENST00000505435
ENST00000509539 ENST00000323375
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MCCC2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MCCC2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: MCCC2 (NM_022132) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MCCC2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCCC2 |
Additional cDNA sequence: AB050049.1 AF261884.1 AF301000.1 AF310971.1 AK025591.1 AK090834.1 AK094987.1 AK310194.1 AL079298.1 BC065027.1 Z70695.1 14 DOTS entries: DT.311066 DT.95275505 DT.100022824 DT.91774223 DT.97774414 DT.99939129 DT.99942106 DT.99949510 DT.100757365 DT.120831092 DT.95275501 DT.95346126 DT.91774229 DT.99975298 24/164 AceView cDNA sequences (see all 164): AA732366 BU633402 BG108042 AW148750 BQ232884 C00869 BG178390 AI949987 BU508876 AA258094 BC065027 BG698749 BU633929 AW418507 AW341014 BF095588 AW439494 BX369816 BQ923729 BQ946735 BX502822 AF310971 AK025591 BF796139
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for MCCC2 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 |
|---|
|
| SP1: | | | | | - | | | | | | | | | | - | | | | | | | | | | | | | | - | | | | - | | - | | - | | | | | | | | | | | | | | |
| SP2: | | | | | - | | | | | | | | | | - | | | | - | | | | | | | | | | - | | | | | | - | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for MCCC2
|
Expression
for MCCC2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MCCC2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCTTCACTCG
About this image
See MCCC2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MCCC2
SOURCE GeneReport for Unigene cluster: Hs.604789
SABiosciences Expression via Pathway-Focused PCR Array including MCCC2:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MCCC2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MCCC2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MCCC2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MCCC2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCCC2 |
Orthologs
for MCCC2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for MCCC2 gene from 9/33 species (see all 33) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Mccc21 , 5 |
methylcrotonoyl-Coenzyme A carboxylase 2 (beta)1, 5 |
83.96(n)1
88.81(a)1 |
|
13 (52.90 cM)5
780381 NM_030026.21 NP_084302.11
999485335 |
chicken
(Gallus gallus) |
Aves |
MCCC21 |
methylcrotonoyl-CoA carboxylase 2 (beta) |
78.99(n)
84.34(a) |
|
427395 XM_424967.3 XP_424967.3 |
lizard
(Anolis carolinensis) |
Reptilia |
MCCC26-- |
-- |
85(a)45(a) |
1 ↔ 1possible ortholog |
2(16763345-16795351) GL343328.1(397547-437905) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.154632 |
Xenopus laevis transcribed sequence with moderate similarity more |
77.54(n) |
|
AW641112.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
Dr.285472 |
Transcribed sequence with moderate similarity to protein more |
76.45(n) |
|
CF266311.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG32671 , 3 |
CoA carboxylase3
CG32671 |
69(a)3
62.31(n)1
70.9(a)1 |
|
2 42C73
592611 NM_144467.11 NP_652724.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
F02A9.4a3
F02A9.41 |
Propionyl-CoA carboxylase3
Protein F02A9.41 |
65(a)3
62.67(n)1
65.73(a)1 |
|
III(9158848-9161099)3
1762851 NM_066612.31 NP_499013.11 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
MCCB1 |
methylcrotonoyl-CoA carboxylase beta chain |
58.72(n)
60.65(a) |
|
829549 NM_119564.4 NP_567950.1 |
rice
(Oryza sativa) |
Liliopsida |
Os.273612 |
Oryza sativa (japonica cultivar-group) cDNA clone0 more |
72.11(n) |
|
AK060716.1 |
ENSEMBL Gene Tree for MCCC2 (if available)
TreeFam Gene Tree for MCCC2 (if available) |
Paralogs
for MCCC2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for MCCC2 gene
- PCCB2
2 SIMAP similar genes for MCCC2 using alignment to 4 protein entries: MCCB_HUMAN (see all proteins):DKFZp451E113 PCCB
MCCC2 for paralogs About GeneDecksing
|
Genomic Variants
for MCCC2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 5 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MCCC2 (70883115 - 70954531 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for MCCC2
2 CNVs: 4453 6412
Human Gene Mutation Database (HGMD): MCCC2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MCCC2 |
|
Disorders
/ Diseases
for MCCC2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MCCC2 for disorders About GeneDecksing
OMIM gene information: 609014
OMIM disorders: 210210
UniProtKB/Swiss-Prot: MCCB_HUMAN, Q9HCC0
Defects in MCCC2 are the cause of methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]. Anautosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severeneurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitinedeficiency
6  diseases for MCCC2: About MalaCards3-methylcrotonyl-coa carboxylase 2 deficiency 3-methylcrotonyl-coa carboxylase deficiency 3-methylglutaconic aciduria carnitine deficiency
tuberculosis mycobacterium tuberculosis
1 disease from the University of Copenhagen DISEASES database for MCCC2:3-Methylcrotonyl-CoA carboxylase deficiency Human Genome Epidemiology (HuGE) Navigator: MCCC2 (3 documents)
Export disorders for MCCC2 gene to outside databases
|
Publications
for MCCC2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for MCCC2 gene, integrated from 9 sources (see all 36):
(articles sorted by number of sources associating them with MCCC2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. (PubMed id 11406611)1, 2, 9 Holzinger A....Roscher A.A. (2001)
- Mutational spectrum in eight Korean patients with 3-methylcrotonyl- CoA carboxylase deficiency. (PubMed id 22150417)1, 2 Cho S.Y.... Jin D.K. (2012)
- Mitochondrial targeting signals and mature peptides of 3-methylcrotonyl-CoA carboxylase. (PubMed id 16023992)1, 2 Stadler S.C....Holzinger A. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. (PubMed id 11170888)1, 2 Gallardo M.E.... Penalva M.A. (2001)
- The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. (PubMed id 11181649)1, 2 Baumgartner M.R.... Valle D. (2001)
- Human biotin-containing subunit of 3-methylcrotonyl-CoA carboxylase gene (MCCA): cDNA sequence, genomic organization, localization to chromosomal band 3q27, and expression. (PubMed id 11401427)1, 9 Obata K.... Kondo I. (2001)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- A single mutation in MCCC1 or MCCC2 as a potential cau se of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. (PubMed id 22264772)1 Morscher R.J....Baumgartner M.R. (2012)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
|
External Searches for MCCC2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing MCCC2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MCCC2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MCCC2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for MCCC2 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MCCC2 |
|
| | |
About This Section
| Patent Information for MCCC2 gene:
Search GeneIP for patents involving MCCC2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for MCCC2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for MCCC2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MCCC2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MCCC2 | | | OriGene Protein Over-expression Lysate for MCCC2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for MCCC2 | | OriGene 3'-UTR Clone for MCCC2 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MCCC2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MCCC2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for MCCC2 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for MCCC2 | | OriGene Custom Protein Services for MCCC2 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MCCC2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MCCC2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MCCC2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MCCC2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MCCC2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MCCC2 |
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| | | | Search Tocris compounds for MCCC2 |
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 | | | MCCC2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCCC2 |
|  |  |  | | | | Search ThermoFisher Antibodies for MCCC2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCCC2 |
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