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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MLYCD Gene

protein-coding   GIFtS: 57
GCID: GC16P083932

malonyl-CoA decarboxylase
 Explore 12 diseases affiliated with
MLYCD via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MLYCD    

Aliases
for MLYCD gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Malonyl-CoA Decarboxylase1 2
MCD1 2 3 5
EC 4.1.1.93 8
HMCD1
Malonyl Coenzyme A Decarboxylase2
Malonyl-CoA Decarboxylase, Mitochondrial2

External Ids:    HGNC: 71501   Entrez Gene: 234172   Ensembl: ENSG000001031507   OMIM: 6067615   UniProtKB: O958223   

Export aliases for MLYCD gene to outside databases

Previous GC identifers: GC16P074843 GC16P084897 GC16P083671 GC16P083712 GC16P082490 GC16P069684


Summaries
for MLYCD 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 MLYCD:
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)

UniProtKB/Swiss-Prot: DCMC_HUMAN, O95822
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




Genomic Views
for MLYCD 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_000016.9  NC_018927.1  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MLYCD gene promoter:
         AhR   NRSF form 1   Pax-2   Pax-2a   NRSF form 2   E47   CBF-B   CBF-A   Pax-4a   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MLYCD promoter sequence
   Search SABiosciences Chromatin IP Primers for MLYCD

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MLYCD


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q24   Ensembl cytogenetic band:  16q23.3   HGNC cytogenetic band: 16q24

MLYCD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MLYCD gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P083932:  view genomic region     (about GC identifiers)

Start:
 83,932,730 bp from pter      End:
 83,949,787 bp from pter
Size:
 17,058 bases      Orientation:
 plus strand

Proteins
for MLYCD 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: DCMC_HUMAN, O95822 (See protein sequence)
Recommended Name: Malonyl-CoA decarboxylase, mitochondrial precursor  
Size: 493 amino acids; 55003 Da
Subcellular location: Mitochondrion. Cytoplasm. Peroxisome
Sequence caution: Sequence=AAD16177.2; Type=Frameshift; Positions=23, 28, 297, 308; Sequence=AAD34631.1; Type=Erroneous
initiation; Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for MLYCD:
2YGW (3D)    
Secondary accessions: Q9UNU5 Q9Y3F2

Explore the universe of human proteins at neXtProt for MLYCD: NX_O95822

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95822

    • 4/6 DME Specific Peptides for MLYCD (O95822) (see all 6)
     MLSEWFS  QQGLQGVELG  SPCEVLQKIS  GFLNLERVTW 

    MLYCD Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_036345.2  
    ENSEMBL proteins: 
     ENSP00000262430  

    Human Recombinant Protein Products: 
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    Novus Biologicals MLYCD Proteins
    Novus Biologicals MLYCD Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MLYCD

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA10455107
    GO:0005739mitochondrion IEA--
    GO:0005777peroxisome IDA10455107
    GO:0005829cytosol IEA--


    MLYCD for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for MLYCD

    Protein Domains /
    Families
    for MLYCD gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MLYCD for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007956 Malonyl_CoA_deC

    Graphical View of Domain Structure for InterPro Entry O95822

    ProtoNet protein and cluster: O95822


    Function
    for MLYCD 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: DCMC_HUMAN, O95822
    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
    Catalytic activity: Malonyl-CoA = acetyl-CoA + CO(2)

         Genatlas biochemistry entry for MLYCD:
    malonyl-CoA decarboxylase

    Enzyme Number (IUBMB): EC 4.1.1.91 2

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MLYCD
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate MLYCD:
    hsa-miR-495 hsa-miR-589*
    SwitchGear 3'UTR luciferase reporter plasmid: MLYCD 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MLYCD (see all 7)
    OriGene shRNA RFP: MLYCD
    OriGene siRNA: MLYCD
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for MLYCD

    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MLYCD 

    Cell Line
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    Search LifeMap BioReagents cell lines for MLYCD

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLYCD

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding IPI--
    GO:0050080malonyl-CoA decarboxylase activity IDA15003260


    MLYCD for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for MLYCD:
     Decreased influenza A/WSN/33 r 

    Animal Models:
         Mouse knock-out Mlycdtm1Jish for MLYCD
         2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Mlycd):
     cardiovascular system  homeostasis/metabolism 

    MLYCD for phenotypes           About GeneDecksing


    Pathways & Interactions
    for MLYCD 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 - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metformin Pathway, Pharmacodynamic
    		Metformin Pathway, Pharmacodynamic1.00
    2AMPK Enzyme Complex Pathway
    		AMPK Enzyme Complex Pathway1.00
    3Peroxisome
    		Peroxisome1.00
    4beta-Alanine metabolism
    		beta-Alanine metabolism1.00
    5Metabolism
    		Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for MLYCD
        AMPK Enzyme Complex Pathway

    1 PharmGKB Pathway for MLYCD
        Metformin Pathway, Pharmacodynamic

    4         Kegg Pathways  (Kegg details for MLYCD):
        beta-Alanine metabolism
    Propanoate metabolism
    Metabolic pathways
    Peroxisome

    UniProtKB/Swiss-Prot: DCMC_HUMAN, O95822
    Pathway: Metabolic intermediate biosynthesis; acetyl-CoA biosynthesis; acetyl-CoA from malonyl-CoA: step 1/1


    MLYCD for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MLYCD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/12 Interacting proteins for MLYCD (ENSP000002624304) via UniProtKB, MINT, STRING, and/or I2D (see all 12)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACAT1ENSP000002658384STRING: ENSP00000265838
    ACAT2ENSP000003560154STRING: ENSP00000356015
    ACACAENSP000003447894STRING: ENSP00000344789
    ACACBENSP000003670794STRING: ENSP00000367079
    ACOT12ENSP000003032464STRING: ENSP00000303246
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006085acetyl-CoA biosynthetic process IEA--
    GO:0006633fatty acid biosynthetic process IDA15003260
    GO:0010906regulation of glucose metabolic process IMP18314420
    GO:0019395fatty acid oxidation IEA--
    GO:0031998regulation of fatty acid beta-oxidation IEA--


    MLYCD for ontologies           About GeneDecksing



    Drugs & Compounds
    for MLYCD 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

    MLYCD for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MLYCD

    4 HMDB Compounds for MLYCD    About this table
    CompoundSynonyms CAS #PubMed Ids
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Malonyl-CoAMalonyl Coenzyme A (see all 11)524-14-1--
    Propionyl-CoAPropionyl-CoA (see all 8)317-66-8--
    10/12 Novoseek chemical compound relationships for MLYCD gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    malonyl-coa 95.3 42 9869665 (3), 17535268 (3), 18499682 (2), 9177981 (2) (see all 10)
    acetyl-coa 80.1 19 14641011 (1), 18614968 (1), 12392882 (1), 12546686 (1) (see all 11)
    dicarboxylate 72.3 1 9700595 (1)
    fatty acid 69.8 20 10455107 (3), 11461195 (2), 18614968 (2), 14641011 (1) (see all 12)
    carnitine 59.8 1 11916905 (1)
    acyl-coa 53.7 2 17351280 (1), 15855325 (1)
    pioglitazone 42.8 1 15855325 (1)
    katp 31.8 4 11113153 (2), 10721892 (1)
    triacylglycerol 29.9 1 16873691 (1)
    glucose 28.5 9 18314420 (5), 14641011 (1), 10721892 (1), 11113153 (1)

    Search CenterWatch for drugs/clinical trials and news about MLYCD / DCMC 

    Transcripts
    for MLYCD 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 MLYCD gene: 
    NM_012213.2  

    Unigene Cluster for MLYCD:

    Malonyl-CoA decarboxylase
    Hs.644610  [show with all ESTs]
    Unigene Representative Sequence: BC052592
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262430(uc002fgz.3) ENST00000569024

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MLYCD
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate MLYCD:
    hsa-miR-495 hsa-miR-589*
    SwitchGear 3'UTR luciferase reporter plasmid: MLYCD 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MLYCD (see all 7)
    OriGene shRNA RFP: MLYCD
    OriGene siRNA: MLYCD
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MLYCD
    Clone
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    Primer
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    Additional cDNA sequence: 

    AF090834.1 AF097832.2 AF153679.1 AK124050.1 BC000286.1 BC052592.1 

    4 DOTS entries:

    DT.414011  DT.100752105  DT.100752103  DT.95266623 

    24/201 AceView cDNA sequences (see all 201):

    BC000286 BQ012584 BM976436 BM920231 CK819852 BM725835 BU741097 AI352381 
    BQ721699 BU859877 BM718683 AI924315 BC020434 AI982883 CA867400 AA642982 
    BU072491 CD366355 AI923689 AA825219 AI283870 BQ186780 AK124050 AI672395 

    GeneLoc Exon Structure


    Expression
    for MLYCD 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

    MLYCD expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAATGCAGAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    MLYCD expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See MLYCD Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MLYCD

    SOURCE GeneReport for Unigene cluster: Hs.644610
        SABiosciences Expression via Pathway-Focused PCR Array including MLYCD: 
              PPAR Targets in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLYCD

    Orthologs
    for MLYCD 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 MLYCD gene from 7/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Mlycd1 , 5 malonyl-CoA decarboxylase1, 5 85(n)1
    89.37(a)1    		   8 (67.64 cM)5
    566901  NM_019966.21  NP_064350.21 
     1193948785 
    chicken
    (Gallus gallus)    		 Aves MLYCD1 malonyl-CoA decarboxylase 71.35(n)
    72.13(a)    		   415812  XM_414174.3  XP_414174.3 
    zebrafish
    (Danio rerio)    		 Actinopterygii mlycd1 malonyl-CoA decarboxylase 63.78(n)
    61.86(a)    		   100037349  NM_001089503.1  NP_001082972.1 
    honey bee
    (Apis mellifera)    		 Insecta --
    		 --
    		 49(a)
    		 1 ↔ 1
    		 GroupUn.5113(1485-3522)
    worm
    (Caenorhabditis elegans)    		 Secernentea F35G12.13
    mlcd-11    		 malonyl-COA decarboxylase3
    Protein MLCD-11    		 40(a)3
    48.31(n)1
    41.53(a)1    		   III(4638203-4639567)3
    1755971  NM_001027390.41  NP_001022561.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT4G043201 malonyl-CoA decarboxylase 47.5(n)
    44.72(a)    		   825752  NM_116670.4  NP_192341.2 
    rice
    (Oryza sativa)    		 Liliopsida Os09g03941001 hypothetical protein 49.57(n)
    41.34(a)    		   4346967  NM_001069626.1  NP_001063091.1 


    ENSEMBL Gene Tree for MLYCD (if available)
    TreeFam Gene Tree for MLYCD (if available) 

    Paralogs
    for MLYCD gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for MLYCD 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

    10/612 NCBI SNPs in MLYCD are shown (see all 612)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048945281,2
    		Cpathogenic69692201(+) GCTCTC/GAGAAT 2 S * stg10--------
    rs780270931,2
    		F,--69682327(+) ACATAG/CCCAGA 1 -- us2k11Minor allele frequency- C:0.08WA 118
    rs778522001,2
    		F,--69682536(+) CATATG/AAGCTA 1 -- us2k11Minor allele frequency- A:0.07WA 118
    rs740323221,2
    		C,--69682868(+) GCACCG/AGGAAA 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1139931491,2
    		--69682884(+) GAAAGA/TACAGG 1 -- us2k12Minor allele frequency- T:0.06CSA WA 120
    rs728087311,2
    		C,F,--69683047(+) NNNNCC/TAGCTG 1 -- us2k13Minor allele frequency- T:0.08WA NA EA 358
    rs727915101,2
    		C,F,--69683177(+) TCTTCG/CTGCCC 1 -- us2k13Minor allele frequency- C:0.08WA NA EA 358
    rs727915111,2
    		--69683326(+) TCCCTC/TACCCT 1 -- us2k10--------
    rs38096231,2
    		C,--69683442(+) CTCTTC/GTACAG 1 -- us2k10--------
    rs1126013611,2
    		--69683583(+) CATTTG/CCTCAA 1 -- us2k12Minor allele frequency- C:0.07CSA WA 120

    HapMap Linkage Disequilibrium report for MLYCD (83932730 - 83949787 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for MLYCD
         1 CNV: 72641
    Human Gene Mutation Database (HGMD): MLYCD

    Locus Specific Mutation Databases (LSDB): MLYCD

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for MLYCD gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    MLYCD for disorders           About GeneDecksing

    OMIM gene information: 606761   
    OMIM disorders: 248360  
    UniProtKB/Swiss-Prot: DCMC_HUMAN, O95822
  • Defects in MLYCD are the cause of malonyl-CoA decarboxylase deficiency (MLYCD deficiency) [MIM:248360]. MLYCD
    • deficiency is an autosomal recessive disease characterized by abdominal pain, chronic constipation, episodic vomiting,
    metabolic acidosis and malonic aciduria

    12 diseases for MLYCD:    About MalaCards
    malonyl-coa decarboxylase deficiency    combined malonic and methylmalonic aciduria    autosomal recessive disease    constipation
    pulmonary hypertension    hypotonia    cardiomyopathy    hypertension
    breast cancer    obesity    cholesterol    sepsis

    5 Novoseek disease relationships for MLYCD gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    malonyl-coa decarboxylase deficiency 98.8 19 11461195 (4), 16078122 (3), 9700595 (2), 10455107 (2) (see all 9)
    cardiomyopathy 56.6 14 16078122 (2), 9177981 (2), 11550227 (2), 12955715 (1) (see all 7)
    developmental delay 55.6 4 12955715 (1), 10455107 (1)
    metabolic acidosis 42.3 3 9869665 (1), 16275149 (1)
    hypoglycemia 42.2 5 12955715 (1), 9869665 (1), 16275149 (1)

    Human Genome Epidemiology (HuGE) Navigator: MLYCD (3 documents)

    Export disorders for MLYCD gene to outside databases

    Publications
    for MLYCD 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 MLYCD gene, integrated from 9 sources (see all 54):
    (articles sorted by number of sources associating them with MLYCD)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. MCD encodes peroxisomal and cytoplasmic forms of malonyl-CoA decarboxylase and is mutated in malonyl-CoA decarboxylase deficiency. (PubMed id 10455107)1, 2, 3, 9 Sacksteder K.A.... Gould S.J. (1999)
    2. Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase. (PubMed id 9869665)1, 2, 3, 9 Gao J.... Cohen J.C. (1999)
    3. The molecular basis of malonyl-CoA decarboxylase deficiency. (PubMed id 10417274)1, 2, 9 FitzPatrick D.R....Christodoulou J. (1999)
    4. 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)
    5. Malonyl-CoA decarboxylase (MCD) is differentially regulated in subcellular compartments by 5'AMP-activated protein kinase (AMPK). Studies using H9c2 cells overexpressing MCD and AMPK by adenoviral gene transfer technique. (PubMed id 15206948)1, 9 Sambandam N....Lopaschuk G.D. (2004)
    6. Malonyl CoenzymeA decarboxylase regulates lipid and glucose metabolism in human skeletal muscle. (PubMed id 18314420)1, 9 Bouzakri K....Zierath J.R. (2008)
    7. Expression, purification, and characterization of human malonyl-CoA decarboxylase. (PubMed id 15003260)1, 9 Zhou D....Yang G. (2004)
    8. MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency. (PubMed id 12955715)1, 9 Wightman P.J....FitzPatrick D.R. (2003)
    9. Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency. (PubMed id 17186413)1, 9 Salomons G.S....Gibson K.M. (2007)
    10. Exercise training decreases the concentration of malonyl-CoA and increases the expression and activity of malonyl-CoA decarboxylase in human muscle. (PubMed id 16434556)1, 9 Kuhl J.E....Bavenholm P.N. (2006)

    External Searches for MLYCD gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing MLYCD gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23417 HGNC: 7150 AceView: MLYCDandOKL38 Ensembl:ENSG00000103150 euGenes: HUgn23417
    ECgene: MLYCD Kegg: 23417 H-InvDB: MLYCD

    Other Databases showing MLYCD gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MLYCD 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
    NameDescription
    PharmGKB entry for MLYCD Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MLYCD

    Intellectual Property
    for MLYCD gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for MLYCD gene:
    Search GeneIP for patents involving MLYCD

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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