This gene encodes the large 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] See more...

Aliases for MCCC1 Gene

Aliases for MCCC1 Gene

  • Methylcrotonoyl-CoA Carboxylase 1 2 3 5
  • Methylcrotonoyl-CoA Carboxylase Subunit Alpha, Mitochondrial 3 4
  • 3-Methylcrotonyl-CoA Carboxylase Biotin-Containing Subunit 3 4
  • 3-Methylcrotonyl-CoA:Carbon Dioxide Ligase Subunit Alpha 3 4
  • Methylcrotonoyl-Coenzyme A Carboxylase 1 (Alpha) 2 3
  • Methylcrotonoyl-CoA Carboxylase Alpha 2 3
  • 3-Methylcrotonyl-CoA Carboxylase 1 3 4
  • MCCase Subunit Alpha 3 4
  • EC 6.4.1.4 4 52
  • MCCA 3 4
  • Methylcrotonoyl-CoA Carboxylase 1 (Alpha) 3
  • EC 6.4.1 52
  • MCC-B 3

External Ids for MCCC1 Gene

Previous GeneCards Identifiers for MCCC1 Gene

  • GC03M179498
  • GC03M183588
  • GC03M184135
  • GC03M184053
  • GC03M184215
  • GC03M182733
  • GC03M180137

Summaries for MCCC1 Gene

Entrez Gene Summary for MCCC1 Gene

  • This gene encodes the large 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 MCCC1 Gene

MCCC1 (Methylcrotonoyl-CoA Carboxylase 1) is a Protein Coding gene. Diseases associated with MCCC1 include 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency and 3-Methylcrotonyl-Coa Carboxylase Deficiency. Among its related pathways are Valine, leucine and isoleucine degradation and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include ligase activity and D-alanine-D-alanine ligase activity. An important paralog of this gene is PCCA.

UniProtKB/Swiss-Prot Summary for MCCC1 Gene

  • Biotin-attachment 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 MCCC1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MCCC1 Gene

Genomics for MCCC1 Gene

GeneHancer (GH) Regulatory Elements for MCCC1 Gene

Promoters and enhancers for MCCC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J183098 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 532 +16.7 16675 2.8 FOXK2 ZNF217 EP300 SIN3A NRF1 MYC POLR2G USF1 SP1 GTF2E2 MCCC1 LAMP3 lnc-LAMP3-2 piR-39099-175
GH03J183115 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 505.2 -0.2 -226 1.4 EP300 NRF1 SP1 ZNF10 ZIC2 REST RFX1 CTBP1 NFYB HDAC2 MCCC1 YEATS2 RF00017-4186
GH03J183114 Enhancer 0.5 ENCODE 505.2 +1.1 1063 1.1 MXI1 YY1 CTCF RCOR1 RAD21 TAF1 MCCC1 LAMP3 HSALNG0031141 LOC105374247
GH03J183108 Enhancer 1.2 FANTOM5 Ensembl ENCODE 33.2 +7.7 7674 1.6 ZNF217 JUND ATF2 CTBP1 MXI1 FOXA2 WT1 ZNF316 MAFF GATA3 HSALNG0031141 LOC105374247 MCCC1 LAMP3
GH03J183178 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 16.7 -63.2 -63157 2.5 CTCF TEAD4 ZBTB26 REST CTBP1 HINFP EZH2 ZNF341 KDM5B ZBTB17 lnc-LAMP3-1 MCCC1 MCF2L2 RF00012-034 SNORD3P4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MCCC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MCCC1

Top Transcription factor binding sites by QIAGEN in the MCCC1 gene promoter:
  • CBF(2)
  • Cdc5
  • Evi-1
  • NF-Y
  • POU2F1
  • POU2F1a
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2

Genomic Locations for MCCC1 Gene

Genomic Locations for MCCC1 Gene
chr3:183,015,218-183,116,075
(GRCh38/hg38)
Size:
100,858 bases
Orientation:
Minus strand
chr3:182,733,006-182,833,863
(GRCh37/hg19)
Size:
100,858 bases
Orientation:
Minus strand

Genomic View for MCCC1 Gene

Genes around MCCC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCCC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCCC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCCC1 Gene

Proteins for MCCC1 Gene

  • Protein details for MCCC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96RQ3-MCCA_HUMAN
    Recommended name:
    Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial
    Protein Accession:
    Q96RQ3
    Secondary Accessions:
    • Q59ES4
    • Q9H959
    • Q9NS97

    Protein attributes for MCCC1 Gene

    Size:
    725 amino acids
    Molecular mass:
    80473 Da
    Cofactor:
    Name=biotin; Xref=ChEBI:CHEBI:57586;
    Quaternary structure:
    • Probably a dodecamer composed of six biotin-containing alpha subunits (MCCC1) and six beta (MCCC2) subunits (PubMed:17360195). Interacts (via the biotin carboxylation domain) with SIRT4 (PubMed:23438705).
    SequenceCaution:
    • Sequence=BAD92974.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MCCC1 Gene

neXtProt entry for MCCC1 Gene

Selected DME Specific Peptides for MCCC1 Gene

Q96RQ3:
  • YDPMIAKLVVW
  • AMKMEHTI
  • QRRHQKIIEEAPAP
  • ERDCSVQRRHQK
  • ETGVRQGDEVSV

Post-translational modifications for MCCC1 Gene

Domains & Families for MCCC1 Gene

Gene Families for MCCC1 Gene

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

Protein Domains for MCCC1 Gene

Suggested Antigen Peptide Sequences for MCCC1 Gene

GenScript: Design optimal peptide antigens:
  • 3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha (MCCA_HUMAN)
genes like me logo Genes that share domains with MCCC1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MCCC1 Gene

Function for MCCC1 Gene

Molecular function for MCCC1 Gene

UniProtKB/Swiss-Prot Function:
Biotin-attachment 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3-methylbut-2-enoyl-CoA + ATP + hydrogencarbonate = ADP + H(+) + phosphate + trans-3-methylglutaconyl-CoA; Xref=Rhea:RHEA:13589, ChEBI:CHEBI:15378, ChEBI:CHEBI:17544, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57344, ChEBI:CHEBI:57346, ChEBI:CHEBI:456216; EC=6.4.1.4; Evidence=. ;.

Enzyme Numbers (IUBMB) for MCCC1 Gene

Phenotypes From GWAS Catalog for MCCC1 Gene

Gene Ontology (GO) - Molecular Function for MCCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004075 biotin carboxylase activity NAS 22869039
GO:0004485 contributes_to methylcrotonoyl-CoA carboxylase activity NAS,IEA 11170888
GO:0005515 protein binding IPI 17360195
GO:0005524 ATP binding IEA --
GO:0009374 biotin binding NAS 11401427
genes like me logo Genes that share ontologies with MCCC1: view
genes like me logo Genes that share phenotypes with MCCC1: view

Human Phenotype Ontology for MCCC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for MCCC1 Gene

miRTarBase miRNAs that target MCCC1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCCC1

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for MCCC1 Gene

Localization for MCCC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCCC1 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 MCCC1 gene
Compartment Confidence
mitochondrion 5
cytosol 4
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MCCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002169 3-methylcrotonyl-CoA carboxylase complex, mitochondrial TAS 22869039
GO:0005739 mitochondrion IDA --
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 MCCC1: view

Pathways & Interactions for MCCC1 Gene

genes like me logo Genes that share pathways with MCCC1: view

UniProtKB/Swiss-Prot Q96RQ3-MCCA_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 MCCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006552 leucine catabolic process ISS,NAS 11170888
GO:0006768 biotin metabolic process NAS,TAS --
GO:0009083 branched-chain amino acid catabolic process TAS --
genes like me logo Genes that share ontologies with MCCC1: view

No data available for SIGNOR curated interactions for MCCC1 Gene

Drugs & Compounds for MCCC1 Gene

(3) Drugs for MCCC1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Biotin Approved, Investigational Nutra Target 59
Phosphoric acid Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(7) Additional Compounds for MCCC1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-methylcrotonyl-coa
  • 3-Methylbut-2-enoyl-CoA
  • 3-Methylbut-2-enoyl-coenzyme A
  • 3-Methylcrotonoyl-CoA
  • 3-Methylcrotonoyl-coenzyme A
  • 3-Methylcrotonyl-coenzyme A
793193-48-3
(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-methylglutaconyl-coa
  • 3-Methylglutaconyl-coenzyme A
  • trans-3-Methylglutaconyl-CoA
  • trans-3-Methylglutaconyl-coenzyme A
6247-73-0
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Carbonic acid
  • [co(OH)2]
  • Dihydrogen carbonate
  • H2CO3
  • Koehlensaeure
  • Carbonate
71-52-3, 463-79-6
genes like me logo Genes that share compounds with MCCC1: view

Transcripts for MCCC1 Gene

mRNA/cDNA for MCCC1 Gene

3 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MCCC1

Alternative Splicing Database (ASD) splice patterns (SP) for MCCC1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19
SP1: -
SP2: - -
SP3: - - -
SP4: -
SP5: -

Relevant External Links for MCCC1 Gene

GeneLoc Exon Structure for
MCCC1

Expression for MCCC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MCCC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MCCC1 Gene

This gene is overexpressed in Heart (9.2) and Nasal epithelium (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MCCC1 Gene



Protein tissue co-expression partners for MCCC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MCCC1

SOURCE GeneReport for Unigene cluster for MCCC1 Gene:

Hs.47649

Evidence on tissue expression from TISSUES for MCCC1 Gene

  • Liver(4.5)
  • Kidney(4.4)
  • Muscle(4.3)
  • Nervous system(3.1)
  • Adrenal gland(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MCCC1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
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 MCCC1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MCCC1 Gene

Orthologs for MCCC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MCCC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MCCC1 31 30
  • 99.45 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MCCC1 31 30
  • 88.92 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MCCC1 31 30
  • 88.47 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mccc1 17 31 30
  • 83.89 (n)
rat
(Rattus norvegicus)
Mammalia Mccc1 30
  • 83.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MCCC1 31
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MCCC1 31
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCCC1 31 30
  • 73.85 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MCCC1 31
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mccc1 30
  • 71.7 (n)
zebrafish
(Danio rerio)
Actinopterygii mccc1 31 30
  • 68.66 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010228 30
  • 56.93 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2118 31 32 30
  • 56.82 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F32B6.2 32 30
  • 56.23 (n)
mccc-1 31
  • 52 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DUR1,2 33 31
  • 12 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons MCCA 30
  • 54.78 (n)
soybean
(Glycine max)
eudicotyledons Gma.6752 30
rice
(Oryza sativa)
Liliopsida Os12g0605800 30
  • 53.23 (n)
Os.19628 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 53 (a)
OneToOne
Cin.1502 30
bread mold
(Neurospora crassa)
Ascomycetes NCU00591 30
  • 52.48 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1502 30
Species where no ortholog for MCCC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MCCC1 Gene

ENSEMBL:
Gene Tree for MCCC1 (if available)
TreeFam:
Gene Tree for MCCC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MCCC1: view image

Paralogs for MCCC1 Gene

Paralogs for MCCC1 Gene

(3) SIMAP similar genes for MCCC1 Gene using alignment to 9 proteins:

  • MCCA_HUMAN
  • E9PG35_HUMAN
  • E9PHF7_HUMAN
  • F2Z2Z7_HUMAN
  • F2Z3E2_HUMAN
  • F5GYT8_HUMAN
  • F8WDI3_HUMAN
  • F8WF46_HUMAN
  • G5E9X5_HUMAN
genes like me logo Genes that share paralogs with MCCC1: view

Variants for MCCC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MCCC1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
203796 Uncertain Significance: 3 Methylcrotonyl-CoA carboxylase 1 deficiency 183,039,072(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
641070 Uncertain Significance: 3 Methylcrotonyl-CoA carboxylase 1 deficiency 183,034,077(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
641392 Uncertain Significance: 3 Methylcrotonyl-CoA carboxylase 1 deficiency 183,071,314(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
641426 Uncertain Significance: 3 Methylcrotonyl-CoA carboxylase 1 deficiency 183,039,099(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
641648 Likely Pathogenic: 3 Methylcrotonyl-CoA carboxylase 1 deficiency 183,039,136(-) C/T SPLICE_ACCEPTOR_VARIANT

Additional dbSNP identifiers (rs#s) for MCCC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for MCCC1 Gene

Variant ID Type Subtype PubMed ID
esv1601884 CNV insertion 17803354
esv28631 CNV gain 19812545
esv32850 CNV loss 17666407
esv3302751 CNV tandem duplication 20981092
esv3575642 CNV gain 25503493
nsv1151591 CNV insertion 26484159
nsv461031 CNV loss 19166990
nsv482968 CNV gain 15286789
nsv508968 CNV insertion 20534489
nsv592654 CNV loss 21841781

Variation tolerance for MCCC1 Gene

Residual Variation Intolerance Score: 74.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.30; 95.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MCCC1 Gene

Human Gene Mutation Database (HGMD)
MCCC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCCC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCCC1 Gene

Disorders for MCCC1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for MCCC1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
3-methylcrotonyl-coa carboxylase 1 deficiency
  • mcc1d
3-methylcrotonyl-coa carboxylase deficiency
  • 3-methylcrotonylglycinuria
tuberculum sellae meningioma
  • meningioma of the tuberculum sellae
sella turcica neoplasm
  • tumor of sella turcica
multiple carboxylase deficiency
  • mcd
- elite association - COSMIC cancer census association via MalaCards
Search MCCC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MCCA_HUMAN
  • 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200]: 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, ECO:0000269 Ref.6}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MCCC1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MCCC1: view

No data available for Genatlas for MCCC1 Gene

Publications for MCCC1 Gene

  1. The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. (PMID: 11170888) Gallardo ME … Peñalva MA (American journal of human genetics 2001) 2 3 4 23 54
  2. Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. (PMID: 17968484) Uematsu M … Ohura T (Journal of human genetics 2007) 3 4 23 54
  3. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. (PMID: 11181649) Baumgartner MR … Valle D (The Journal of clinical investigation 2001) 3 4 23 54
  4. 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 23 54
  5. Human biotin-containing subunit of 3-methylcrotonyl-CoA carboxylase gene (MCCA): cDNA sequence, genomic organization, localization to chromosomal band 3q27, and expression. (PMID: 11401427) Obata K … Kondo I (Genomics 2001) 3 4 23 54

Products for MCCC1 Gene

  • Signalway ELISA kits for MCCC1
  • Signalway Proteins for MCCC1

Sources for MCCC1 Gene