Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MCCC2 Gene

Aliases for MCCC2 Gene

  • Methylcrotonoyl-CoA Carboxylase 2 2 3 5
  • 3-Methylcrotonyl-CoA Carboxylase Non-Biotin-Containing Subunit 3 4
  • 3-Methylcrotonyl-CoA:Carbon Dioxide Ligase Subunit Beta 3 4
  • Methylcrotonoyl-Coenzyme A Carboxylase 2 (Beta) 2 3
  • 3-Methylcrotonyl-CoA Carboxylase 2 3 4
  • MCCase Subunit Beta 3 4
  • EC 6.4.1.4 4 58
  • MCCB 3 4
  • Non-Biotin Containing Subunit Of 3-Methylcrotonyl-CoA Carboxylase 3
  • Methylcrotonoyl-CoA Carboxylase Beta Chain, Mitochondrial 3
  • Methylcrotonoyl-CoA Carboxylase 2 (Beta) 3
  • Methylcrotonoyl-CoA Carboxylase Beta 2
  • Testicular Secretory Protein Li 29 3
  • Biotin Carboxylase 3

External Ids for MCCC2 Gene

Previous GeneCards Identifiers for MCCC2 Gene

  • GC05P069689
  • GC05P071116
  • GC05P070921
  • GC05P070967
  • GC05P070918
  • GC05P066088
  • GC05P070883

Summaries for MCCC2 Gene

Entrez Gene Summary for MCCC2 Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for MCCC2 Gene

MCCC2 (Methylcrotonoyl-CoA Carboxylase 2) is a Protein Coding gene. Diseases associated with MCCC2 include 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency and 3-Methylcrotonyl-Coa Carboxylase Deficiency. Among its related pathways are Metabolism and HIV Life Cycle. GO annotations related to this gene include ligase activity and methylcrotonoyl-CoA carboxylase activity. An important paralog of this gene is PCCB.

UniProtKB/Swiss-Prot for MCCC2 Gene

  • Carboxyltransferase subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism.

Additional gene information for MCCC2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCCC2 Gene

Genomics for MCCC2 Gene

Regulatory Elements for MCCC2 Gene

Enhancers for MCCC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H071600 1.2 Ensembl ENCODE 18.4 +14.1 14129 2 SIN3A FEZF1 ZNF2 ZNF121 ZNF143 FOS RUNX3 SP3 JUNB TSHZ1 MCCC2 CARTPT
GH05H071585 1.1 ENCODE 17.6 +0.1 142 3 HDGF FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 MCCC2 BDP1 CARTPT
GH05H071454 1.1 ENCODE 12.6 -131.3 -131272 2 HDGF FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 DEK BDP1 ENSG00000196302 MCCC2 SMN1 LOC100419852
GH05H071481 0.8 ENCODE 15.6 -104.1 -104062 2 ELF3 FOXA2 NFIB RARA RFX5 ZSCAN5C FOS ZNF362 CEBPB PRDM6 MCCC2 BDP1 LOC653080 GUSBP9 SMN1 MRPS27 NAIP LOC100419852 HMGN1P12
GH05H071414 0.7 dbSUPER 11.9 -164.7 -164676 15 MAFG FEZF1 ATF2 ZSCAN21 ZNF664 NFIC JUND ZNF316 SCRT2 NFE2 MCCC2 BDP1 LOC653406 SERF1A LOC107987434 LOC107987420 PMCHL2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MCCC2 on UCSC Golden Path with GeneCards custom track

Promoters for MCCC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000182129 12 1801 HDGF FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for MCCC2 Gene

Chromosome:
5
Start:
71,587,288 bp from pter
End:
71,658,706 bp from pter
Size:
71,419 bases
Orientation:
Plus strand

Genomic View for MCCC2 Gene

Genes around MCCC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCCC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCCC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCCC2 Gene

Proteins for MCCC2 Gene

  • Protein details for MCCC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCC0-MCCB_HUMAN
    Recommended name:
    Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
    Protein Accession:
    Q9HCC0
    Secondary Accessions:
    • A6NIY9
    • Q96C27
    • Q9Y4L7

    Protein attributes for MCCC2 Gene

    Size:
    563 amino acids
    Molecular mass:
    61333 Da
    Quaternary structure:
    • Probably a dodecamer composed of six biotin-containing alpha subunits (MCCC1) and six beta (MCCC2) subunits.
    SequenceCaution:
    • Sequence=AAH14897.1; Type=Frameshift; Positions=359; Evidence={ECO:0000305};

    Alternative splice isoforms for MCCC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MCCC2 Gene

Selected DME Specific Peptides for MCCC2 Gene

Q9HCC0:
  • GIAKDGAKMV
  • GAGNYGMCGR
  • FLQNITGFMVG
  • TLVTGFARI
  • GPPLVKAATGE
  • ISVMGGEQAA
  • GSCTAGGAY
  • DVREVIARIVDGSRF

Post-translational modifications for MCCC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for MCCC2
  • Cloud-Clone Corp. Antibodies for MCCC2
  • Santa Cruz Biotechnology (SCBT) Antibodies for MCCC2

Domains & Families for MCCC2 Gene

Gene Families for MCCC2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for MCCC2 Gene

Suggested Antigen Peptide Sequences for MCCC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HCC0

UniProtKB/Swiss-Prot:

MCCB_HUMAN :
  • Belongs to the AccD/PCCB family.
Family:
  • Belongs to the AccD/PCCB family.
genes like me logo Genes that share domains with MCCC2: view

Function for MCCC2 Gene

Molecular function for MCCC2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=45 uM for ATP {ECO:0000269 PubMed:17360195}; KM=74 uM for 3-methylcrotonyl-CoA {ECO:0000269 PubMed:17360195}; Note=kcat is 4.0 sec(-1).;
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 3-methylcrotonoyl-CoA + HCO(3)(-) = ADP + phosphate + 3-methylglutaconyl-CoA.
UniProtKB/Swiss-Prot Function:
Carboxyltransferase subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism.

Enzyme Numbers (IUBMB) for MCCC2 Gene

Phenotypes From GWAS Catalog for MCCC2 Gene

Gene Ontology (GO) - Molecular Function for MCCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004485 contributes_to methylcrotonoyl-CoA carboxylase activity IDA,NAS 11170888
GO:0005515 protein binding IPI 17360195
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with MCCC2: view
genes like me logo Genes that share phenotypes with MCCC2: view

Human Phenotype Ontology for MCCC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MCCC2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for MCCC2 Gene

Localization for MCCC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCCC2 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MCCC2 gene
Compartment Confidence
mitochondrion 5
cytosol 4
plasma membrane 1
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MCCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002169 3-methylcrotonyl-CoA carboxylase complex, mitochondrial TAS 22869039
GO:0005739 mitochondrion IDA,NAS 11181649
GO:0005759 mitochondrial matrix IDA,TAS --
GO:0005829 cytosol TAS --
GO:1905202 methylcrotonoyl-CoA carboxylase complex IDA 17360195
genes like me logo Genes that share ontologies with MCCC2: view

Pathways & Interactions for MCCC2 Gene

genes like me logo Genes that share pathways with MCCC2: view

UniProtKB/Swiss-Prot Q9HCC0-MCCB_HUMAN

  • Pathway: Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 2/3.

Gene Ontology (GO) - Biological Process for MCCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006552 leucine catabolic process TAS 11170888
GO:0006768 biotin metabolic process TAS --
GO:0009083 branched-chain amino acid catabolic process TAS --
GO:0015936 coenzyme A metabolic process IEA --
GO:0051291 protein heterooligomerization NAS 11170888
genes like me logo Genes that share ontologies with MCCC2: view

No data available for SIGNOR curated interactions for MCCC2 Gene

Drugs & Compounds for MCCC2 Gene

(3) Drugs for MCCC2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Biotin Approved Nutra Target 49
Phosphoric acid Approved Pharma 0
ATP Nutra Agonist 0

(7) Additional Compounds for MCCC2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(E)-2-Methylglutaconic acid
  • (E)-2-methyl-2-Pentenedioate
  • (E)-2-methyl-2-Pentenedioic acid
  • (E)-2-Methylglutaconate
  • trans-2-Methylglutaconate
  • trans-2-Methylglutaconic acid
53358-21-7
3-methylcrotonyl-coa
  • 3-Methylbut-2-enoyl-CoA
  • 3-Methylbut-2-enoyl-Coenzyme A
  • 3-Methylcrotonoyl-CoA
  • 3-Methylcrotonoyl-Coenzyme A
  • 3-Methylcrotonyl-CoA
793193-48-3
3-methylglutaconyl-coa
  • 3-Methylglutaconyl-CoA
  • 3-Methylglutaconyl-Coenzyme A
  • trans-3-Methylglutaconyl-CoA
  • trans-3-Methylglutaconyl-Coenzyme A
6247-73-0
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Carbonic acid
  • Acid of air
  • Aerial acid
  • Bisodium carbonate
  • Calcined
  • Carbonic acid sodium salt
463-79-6
genes like me logo Genes that share compounds with MCCC2: view

Transcripts for MCCC2 Gene

Unigene Clusters for MCCC2 Gene

Methylcrotonoyl-CoA carboxylase 2 (beta):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MCCC2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for MCCC2 Gene

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: -

Relevant External Links for MCCC2 Gene

GeneLoc Exon Structure for
MCCC2
ECgene alternative splicing isoforms for
MCCC2

Expression for MCCC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MCCC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MCCC2 Gene

This gene is overexpressed in Breast (8.9), Heart (8.2), and Liver (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MCCC2 Gene



Protein tissue co-expression partners for MCCC2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MCCC2 Gene:

MCCC2

SOURCE GeneReport for Unigene cluster for MCCC2 Gene:

Hs.604789

Evidence on tissue expression from TISSUES for MCCC2 Gene

  • Kidney(4.4)
  • Liver(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MCCC2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • esophagus
  • heart
Abdomen:
  • adrenal gland
  • kidney
  • liver
  • stomach
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with MCCC2: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MCCC2 Gene

Orthologs for MCCC2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MCCC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MCCC2 33 34
  • 99.35 (n)
cow
(Bos Taurus)
Mammalia MCCC2 33 34
  • 89.22 (n)
dog
(Canis familiaris)
Mammalia MCCC2 33 34
  • 88.99 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 87 (a)
OneToMany
-- 34
  • 85 (a)
OneToMany
-- 34
  • 74 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Mccc2 33
  • 84.49 (n)
mouse
(Mus musculus)
Mammalia Mccc2 33 16 34
  • 83.96 (n)
oppossum
(Monodelphis domestica)
Mammalia MCCC2 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCCC2 33 34
  • 78.99 (n)
lizard
(Anolis carolinensis)
Reptilia MCCC2 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mccc2 33
  • 73.6 (n)
Str.17184 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15463 33
zebrafish
(Danio rerio)
Actinopterygii mccc2 33 34
  • 73.73 (n)
Dr.28547 33
fruit fly
(Drosophila melanogaster)
Insecta CG3267 35 33 34
  • 62.31 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002761 33
  • 60.83 (n)
worm
(Caenorhabditis elegans)
Secernentea F02A9.4a 35
  • 65 (a)
F02A9.4 33 34
  • 62.8 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons MCCB 33
  • 58.13 (n)
rice
(Oryza sativa)
Liliopsida Os08g0424200 33
  • 62.43 (n)
Os.27361 33
barley
(Hordeum vulgare)
Liliopsida Hv.5157 33
wheat
(Triticum aestivum)
Liliopsida Ta.30569 33
corn
(Zea mays)
Liliopsida Zm.5892 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 67 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02127 33
  • 57.14 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13289 33
Species where no ortholog for MCCC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for MCCC2 Gene

ENSEMBL:
Gene Tree for MCCC2 (if available)
TreeFam:
Gene Tree for MCCC2 (if available)

Paralogs for MCCC2 Gene

Paralogs for MCCC2 Gene

(2) SIMAP similar genes for MCCC2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with MCCC2: view

Variants for MCCC2 Gene

Sequence variations from dbSNP and Humsavar for MCCC2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs119103219 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
rs119103220 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
rs119103221 Pathogenic, 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] 71,635,176(+) AGAGC(C/G)TTTAT nc-transcript-variant, reference, missense
rs119103222 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]
rs119103223 Pathogenic, 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] 71,632,185(+) TTGCA(C/G)GTGAA nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MCCC2 Gene

Variant ID Type Subtype PubMed ID
esv3605391 CNV loss 21293372
nsv1034703 CNV gain 25217958
nsv328811 CNV deletion 16902084
nsv830340 CNV loss 17160897

Variation tolerance for MCCC2 Gene

Residual Variation Intolerance Score: 40.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.72; 32.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MCCC2 Gene

Human Gene Mutation Database (HGMD)
MCCC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCCC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCCC2 Gene

Disorders for MCCC2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for MCCC2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
3-methylcrotonyl-coa carboxylase 2 deficiency
  • 3-methylcrotonoyl-coa carboxylase 2 deficiency
3-methylcrotonyl-coa carboxylase deficiency
  • 3-methylcrotonylglycinuria
mccc2-related 3-methylcrotonyl-coa carboxylase deficiency
multiple carboxylase deficiency
  • mcd
ketothiolase deficiency
  • beta-ketothiolase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search MCCC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MCCB_HUMAN
  • 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210]: 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. {ECO:0000269 PubMed:11170888, ECO:0000269 PubMed:11181649, ECO:0000269 PubMed:11406611, ECO:0000269 PubMed:16010683, ECO:0000269 PubMed:17968484, ECO:0000269 PubMed:21071250, ECO:0000269 PubMed:22150417, ECO:0000269 PubMed:22264772, ECO:0000269 PubMed:22642865, ECO:0000269 PubMed:25382614, ECO:0000269 PubMed:27601257}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MCCC2

Genetic Association Database (GAD)
MCCC2
Human Genome Epidemiology (HuGE) Navigator
MCCC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MCCC2
genes like me logo Genes that share disorders with MCCC2: view

No data available for Genatlas for MCCC2 Gene

Publications for MCCC2 Gene

  1. Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency. (PMID: 11406611) Holzinger A … Roscher AA (Human molecular genetics 2001) 3 4 22 60
  2. 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. (PMID: 27601257) Fonseca H … Vilarinho L (Gene 2016) 3 4 60
  3. Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency. (PMID: 25382614) Yang L … Qi M (Clinical genetics 2015) 3 4 60
  4. A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. (PMID: 22264772) Morscher RJ … Baumgartner MR (Molecular genetics and metabolism 2012) 3 4 60
  5. Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. (PMID: 22150417) Cho SY … Jin DK (Clinical genetics 2012) 3 4 60

Products for MCCC2 Gene

Sources for MCCC2 Gene

Content
Loading form....