MLYCD Gene (Protein Coding)

Malonyl-CoA Decarboxylase

GC16P083899
GIFtS:
43
The product of this gene catalyzes the breakdown of malonyl-CoA to acetyl-CoA and carbon dioxide. Malonyl-CoA is an intermediate in fatty acid biosynthesis, and also inhibits the transport of fatty acyl CoAs into mitochondria. Consequently, the encoded protein acts to increase the rate of fatty acid oxidation. It is found in mitochondria, peroxisomes, and the cytoplasm. Mutatio... See more...

Aliases for MLYCD Gene

Aliases for MLYCD Gene

  • Malonyl-CoA Decarboxylase 2 3 5
  • MCD 2 3 4
  • Malonyl-CoA Decarboxylase, Mitochondrial 3 4
  • EC 4.1.1.9 4 51
  • Malonyl Coenzyme A Decarboxylase 3
  • MLYCD 5
  • HMCD 2

External Ids for MLYCD Gene

Previous GeneCards Identifiers for MLYCD Gene

  • GC16P074843
  • GC16P084897
  • GC16P083671
  • GC16P083712
  • GC16P082490
  • GC16P083932
  • GC16P069684

Summaries for MLYCD Gene

Entrez Gene Summary for MLYCD Gene

  • The product of this gene catalyzes the breakdown of malonyl-CoA to acetyl-CoA and carbon dioxide. Malonyl-CoA is an intermediate in fatty acid biosynthesis, and also inhibits the transport of fatty acyl CoAs into mitochondria. Consequently, the encoded protein acts to increase the rate of fatty acid oxidation. It is found in mitochondria, peroxisomes, and the cytoplasm. Mutations in this gene result in malonyl-CoA decarboyxlase deficiency. [provided by RefSeq, Jul 2008]

GeneCards Summary for MLYCD Gene

MLYCD (Malonyl-CoA Decarboxylase) is a Protein Coding gene. Diseases associated with MLYCD include Malonyl-Coa Decarboxylase Deficiency and Combined Malonic And Methylmalonic Aciduria. Among its related pathways are beta-Alanine metabolism (KEGG) and Metabolism. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and malonyl-CoA decarboxylase activity.

UniProtKB/Swiss-Prot Summary for MLYCD Gene

  • Catalyzes the conversion of malonyl-CoA to acetyl-CoA. In the fatty acid biosynthesis MCD selectively removes malonyl-CoA and thus assures that methyl-malonyl-CoA is the only chain elongating substrate for fatty acid synthase and that fatty acids with multiple methyl side chains are produced. In peroxisomes it may be involved in degrading intraperoxisomal malonyl-CoA, which is generated by the peroxisomal beta-oxidation of odd chain-length dicarboxylic fatty acids. Plays a role in the metabolic balance between glucose and lipid oxidation in muscle independent of alterations in insulin signaling. May play a role in controlling the extent of ischemic injury by promoting glucose oxidation.

Additional gene information for MLYCD Gene

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

Genomics for MLYCD Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for MLYCD 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
GH16J083897 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +0.8 761 4.1 SP1 CREB1 GATAD2A PRDM10 LARP7 MTA2 RBFOX2 POLR2A RXRB PATZ1 HSALNG0113077 MLYCD TAF1C lnc-OSGIN1-1 LOC105371371
GH16J083911 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE dbSUPER 600.4 +13.8 13805 2 CREB1 ATF7 ESR1 NCOA3 MLYCD lnc-OSGIN1-1 LOC105371371
GH16J083917 Promoter 0.3 EPDnew 600.4 +18.7 18683 0.1 lnc-OSGIN1-1 MLYCD LOC105371371
GH16J083925 Promoter 0.3 EPDnew 600.3 +26.0 26042 0.1 MLYCD piR-43241 LOC105371371 LOC105371372
GH16J083952 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.4 +54.9 54901 3.2 HNRNPL CREB1 GATAD2A CTCF PRDM10 ZNF629 REST TFE3 LEF1 IKZF1 OSGIN1 HSALNG0113087 TAF1C ENSG00000261243 KLHL36 RNA5SP432 SLC38A8 MLYCD DNAAF1 HSDL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MLYCD on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the MLYCD gene promoter:
  • AhR
  • CBF(2)
  • CBF-A
  • CBF-B
  • E47
  • NRSF form 1
  • NRSF form 2
  • Pax-2
  • Pax-2a
  • Pax-4a

Genomic Locations for MLYCD Gene

Genomic Locations for MLYCD Gene
chr16:83,899,115-83,951,445
(GRCh38/hg38)
Size:
52,331 bases
Orientation:
Plus strand
chr16:83,932,730-83,949,787
(GRCh37/hg19)
Size:
17,058 bases
Orientation:
Plus strand

Genomic View for MLYCD Gene

Genes around MLYCD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MLYCD Gene

Proteins for MLYCD Gene

Products:

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

    Protein Symbol:
    O95822-DCMC_HUMAN
    Recommended name:
    Malonyl-CoA decarboxylase, mitochondrial
    Protein Accession:
    O95822
    Secondary Accessions:
    • Q9UNU5
    • Q9Y3F2

    Protein attributes for MLYCD Gene

    Size:
    493 amino acids
    Molecular mass:
    55003 Da
    Quaternary structure:
    • Homotetramer. Dimer of dimers. The two subunits within a dimer display conformational differences suggesting that at any given moment, only one of the two subunits is competent for malonyl-CoA binding and catalytic activity. Under oxidizing conditions, can form disulfide-linked homotetramers (in vitro). Associates with the peroxisomal targeting signal receptor PEX5.
    SequenceCaution:
    • Sequence=AAD16177.2; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform Cytoplasmic+peroxisomal]: May be produced by alternative initiation at Met-40 of isoform mitochondrial. Alternatively, represents a proteolytic processed form of the mitochondrial form.

    Three dimensional structures from OCA and Proteopedia for MLYCD Gene

    Alternative splice isoforms for MLYCD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MLYCD Gene

Protein Expression for MLYCD Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for MLYCD Gene

O95822:
  • QQGLQGVELG
  • SPCEVLQKIS
  • GFLNLERVTW
  • KRRVGPYRRCYFFSHC
  • MLSEWFS
  • PLMRLCAWYLYGEKHRGYALNPVANFHLQNGA

Post-translational modifications for MLYCD Gene

  • Acetylation at Lys-472 activates malonyl-CoA decarboxylase activity. Deacetylation at Lys-472 by SIRT4 represses activity, leading to promote lipogenesis (By similarity).
  • Interchain disulfide bonds may form in peroxisomes (Potential). Interchain disulfide bonds are not expected to form in the reducing environment of the cytoplasm and mitochondria.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MLYCD Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MLYCD Gene

Gene Families for MLYCD Gene

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

Protein Domains for MLYCD Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MLYCD Gene

GenScript: Design optimal peptide antigens:
  • Malonyl-CoA decarboxylase, mitochondrial (DCMC_HUMAN)
genes like me logo Genes that share domains with MLYCD: view

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

Function for MLYCD Gene

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Molecular function for MLYCD Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the conversion of malonyl-CoA to acetyl-CoA. In the fatty acid biosynthesis MCD selectively removes malonyl-CoA and thus assures that methyl-malonyl-CoA is the only chain elongating substrate for fatty acid synthase and that fatty acids with multiple methyl side chains are produced. In peroxisomes it may be involved in degrading intraperoxisomal malonyl-CoA, which is generated by the peroxisomal beta-oxidation of odd chain-length dicarboxylic fatty acids. Plays a role in the metabolic balance between glucose and lipid oxidation in muscle independent of alterations in insulin signaling. May play a role in controlling the extent of ischemic injury by promoting glucose oxidation.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + malonyl-CoA = acetyl-CoA + CO2; Xref=Rhea:RHEA:18781, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57288, ChEBI:CHEBI:57384; EC=4.1.1.9; Evidence={ECO:0000269|PubMed:10417274, ECO:0000269|PubMed:10455107, ECO:0000269|PubMed:15003260, ECO:0000269|PubMed:23482565, ECO:0000269|PubMed:9869665};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.36 mM for malonyl-CoA (Malonyl-CoA decarboxylase mitochondrial form) {ECO:0000269|PubMed:15003260}; KM=0.83 mM for malonyl-CoA (Malonyl-CoA decarboxylase mitochondrial form) {ECO:0000269|PubMed:23482565}; KM=0.22 mM for malonyl-CoA (Malonyl-CoA decarboxylase cytoplasmic+peroxisomal form) {ECO:0000269|PubMed:10455107}; KM=0.33 mM for malonyl-CoA (Malonyl-CoA decarboxylase cytoplasmic+peroxisomal form) {ECO:0000269|PubMed:15003260}; Note=kcat is 19 sec(-1) with malonyl-CoA for malonyl-CoA decarboxylase mitochondrial form (PubMed:15003260). kcat is 28 sec(-1) with malonyl-CoA for Malonyl-CoA decarboxylase cytoplasmic+peroxisomal form (PubMed:15003260). The catalytic efficiency for malonyl-CoA is at least 1.09-fold higher with the malonyl-CoA decarboxylase cytoplasmic+peroxisomal form (PubMed:15003260). {ECO:0000269|PubMed:15003260};
UniProtKB/Swiss-Prot EnzymeRegulation:
Malonyl-CoA decarboxylase activity does not require any cofactors or divalent metal ions. Formation of interchain disulfide bonds leads to positive cooperativity between active sites and increases the affinity for malonyl-CoA and the catalytic efficiency (in vitro).
GENATLAS Biochemistry:
malonyl-CoA decarboxylase

Enzyme Numbers (IUBMB) for MLYCD Gene

Phenotypes From GWAS Catalog for MLYCD Gene

Gene Ontology (GO) - Molecular Function for MLYCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016829 lyase activity IEA --
GO:0016831 carboxy-lyase activity IEA --
GO:0042802 identical protein binding IPI 23791943
GO:0050080 malonyl-CoA decarboxylase activity IEA,TAS --
genes like me logo Genes that share ontologies with MLYCD: view
genes like me logo Genes that share phenotypes with MLYCD: view

Human Phenotype Ontology for MLYCD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MLYCD Gene

MGI Knock Outs for MLYCD:

Animal Model Products

CRISPR Products

miRNA for MLYCD Gene

miRTarBase miRNAs that target MLYCD

Inhibitory RNA Products

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

No data available for Transcription Factor Targets and HOMER Transcription for MLYCD Gene

Localization for MLYCD Gene

Subcellular locations from UniProtKB/Swiss-Prot for MLYCD Gene

Cytoplasm. Mitochondrion matrix. Peroxisome. Peroxisome matrix. Note=Enzymatically active in all three subcellular compartments. {ECO:0000250 UniProtKB:Q920F5}.

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 MLYCD gene
Compartment Confidence
mitochondrion 5
peroxisome 5
cytosol 4
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MLYCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 10455107
GO:0005739 mitochondrion IEA,IDA 10417274
GO:0005759 mitochondrial matrix IBA,ISS --
GO:0005777 peroxisome IEA,IDA 10417274
GO:0005782 peroxisomal matrix IBA,TAS --
genes like me logo Genes that share ontologies with MLYCD: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MLYCD Gene

Pathways & Interactions for MLYCD Gene

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

Pathways by source for MLYCD Gene

1 PharmGKB pathway for MLYCD Gene
1 Qiagen pathway for MLYCD Gene
  • AMPK Enzyme Complex Pathway

UniProtKB/Swiss-Prot O95822-DCMC_HUMAN

  • Pathway: Metabolic intermediate biosynthesis; acetyl-CoA biosynthesis; acetyl-CoA from malonyl-CoA: step 1/1.

Gene Ontology (GO) - Biological Process for MLYCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002931 response to ischemia IEA,ISS --
GO:0006085 acetyl-CoA biosynthetic process IBA,IEA --
GO:0006625 protein targeting to peroxisome TAS --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
genes like me logo Genes that share ontologies with MLYCD: view

No data available for SIGNOR curated interactions for MLYCD Gene

Drugs & Compounds for MLYCD Gene

Products:

  1. Drug

(6) Drugs for MLYCD Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Malonyl-CoA Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0

(8) Additional Compounds for MLYCD Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • AcCoA
  • Acetyl coenzyme A
  • S-Acetyl-CoA
  • S-Acetyl-coenzyme A
  • Ac-CoA
 72-89-9
genes like me logo Genes that share compounds with MLYCD: view

Transcripts for MLYCD Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MLYCD Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 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 MLYCD

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

No ASD Table

Relevant External Links for MLYCD Gene

GeneLoc Exon Structure for
MLYCD

Expression for MLYCD Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for MLYCD Gene
mRNA expression by BioGPS for MLYCD GenemRNA expression by GTEx for MLYCD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MLYCD Gene

This gene is overexpressed in Heart - Left Ventricle (x8.5), Muscle - Skeletal (x4.6), and Heart - Atrial Appendage (x4.4).

Protein differential expression in normal tissues from HIPED for MLYCD Gene

This gene is overexpressed in Heart (15.8) and Gallbladder (10.2).

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



Protein tissue co-expression partners for MLYCD Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for MLYCD Gene:

Hs.644610

mRNA Expression by UniProt/SwissProt for MLYCD Gene:

O95822-DCMC_HUMAN
Tissue specificity: Expressed in fibroblasts and hepatoblastoma cells (at protein level). Expressed strongly in heart, liver, skeletal muscle, kidney and pancreas. Expressed in myotubes. Expressed weakly in brain, placenta, spleen, thymus, testis, ovary and small intestine.

Evidence on tissue expression from TISSUES for MLYCD Gene

  • Heart(4.6)
  • Lung(4.2)
  • Eye(4.2)
  • Muscle(3.1)
  • Liver(3)
  • Kidney(2.2)
  • Pancreas(2.2)
  • Blood(2)
  • Nervous system(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • esophagus
  • heart
  • heart valve
Abdomen:
  • adrenal gland
  • intestine
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • anus
  • rectum
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with MLYCD: view

Orthologs for MLYCD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MLYCD Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MLYCD 30
  • 99.32 (n)
-- 31
  • 99 (a)
 OneToMany
Dog
(Canis familiaris)
 Mammalia -- 31
  • 87 (a)
 OneToMany
MLYCD 30
  • 86.29 (n)
Mouse
(Mus musculus)
 Mammalia Mlycd 30 17 31
  • 84.28 (n)
 OneToMany
Cow
(Bos Taurus)
 Mammalia MLYCD 30 31
  • 83.91 (n)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Mlycd 30
  • 83.44 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 83 (a)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 81 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves MLYCD 30
  • 72.03 (n)
-- 31
  • 69 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia mlycd 30
  • 63.62 (n)
Zebrafish
(Danio rerio)
 Actinopterygii mlycd 30 31
  • 63.78 (n)
 OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.13403 30
Worm
(Caenorhabditis elegans)
 Secernentea mlcd-1 30 31
  • 49.28 (n)
 OneToMany
F35G12.1 32
  • 40 (a)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT4G04320 30
  • 47.76 (n)
Rice
(Oryza sativa)
 Liliopsida Os09g0394100 30
  • 50.65 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 38 (a)
 OneToMany
Species where no ortholog for MLYCD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for MLYCD Gene

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

Paralogs for MLYCD Gene

No data available for Paralogs for MLYCD Gene

Variants for MLYCD Gene

Products:

  1. SNP Genotyping and Copy Number Assay

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

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
650475 Uncertain Significance: Deficiency of malonyl-CoA decarboxylase 83,915,301(+) C/T MISSENSE_VARIANT
653829 Uncertain Significance: Deficiency of malonyl-CoA decarboxylase 83,907,095(+) A/T MISSENSE_VARIANT
655558 Uncertain Significance: Deficiency of malonyl-CoA decarboxylase 83,915,104(+) T/A MISSENSE_VARIANT
657813 Uncertain Significance: Deficiency of malonyl-CoA decarboxylase 83,915,262(+) G/A MISSENSE_VARIANT
697439 Likely Benign: Deficiency of malonyl-CoA decarboxylase 83,908,170(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MLYCD Gene

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

Variant ID Type Subtype PubMed ID
dgv3054n100 CNV gain 25217958
esv26248 CNV loss 19812545
nsv1065790 CNV loss 25217958
nsv1123074 CNV deletion 24896259
nsv1908 CNV insertion 18451855
nsv457587 CNV loss 19166990
nsv573398 CNV gain 21841781
nsv573401 CNV gain 21841781
nsv573406 CNV loss 21841781
nsv573408 CNV gain 21841781

Variation tolerance for MLYCD Gene

Residual Variation Intolerance Score: 62.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.09; 50.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MLYCD Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MLYCD Gene

MalaCards: The human disease database

(8) MalaCards diseases for MLYCD Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
malonyl-coa decarboxylase deficiency
  • malonic acidemia
combined malonic and methylmalonic aciduria
  • cmamma
metabolic acidosis
carnitine palmitoyltransferase ii deficiency, infantile
  • carnitine palmitoyltransferase ii deficiency with hypoketotic hypoglycemia
autosomal recessive disease
  • autosomal recessive disorder
- elite association - COSMIC cancer census association via MalaCards
Search MLYCD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DCMC_HUMAN
  • Malonyl-CoA decarboxylase deficiency (MLYCD deficiency) [MIM:248360]: Autosomal recessive disease characterized by abdominal pain, chronic constipation, episodic vomiting, metabolic acidosis and malonic aciduria. {ECO:0000269 PubMed:10417274}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MLYCD

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

No data available for Genatlas for MLYCD Gene

Publications for MLYCD Gene

  1. MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiency. (PMID: 10455107) Sacksteder KA … Gould SJ (The Journal of biological chemistry 1999) 2 3 4 23
  2. Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase. (PMID: 9869665) Gao J … Cohen JC (Journal of lipid research 1999) 2 3 4 23
  3. Malonyl CoenzymeA decarboxylase regulates lipid and glucose metabolism in human skeletal muscle. (PMID: 18314420) Bouzakri K … Zierath JR (Diabetes 2008) 3 4 23
  4. Expression, purification, and characterization of human malonyl-CoA decarboxylase. (PMID: 15003260) Zhou D … Yang G (Protein expression and purification 2004) 3 4 23
  5. The molecular basis of malonyl-CoA decarboxylase deficiency. (PMID: 10417274) FitzPatrick DR … Christodoulou J (American journal of human genetics 1999) 3 4 23

ExternalLinks

View latest publications for MLYCD gene in Mastermind

Products for MLYCD Gene

  • Addgene plasmids for MLYCD

Sources for MLYCD Gene