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MMADHC Gene

protein-coding   GIFtS: 55
GCID: GC02M150426

Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type,...

(Previous name: chromosome 2 open reading frame 25)
(Previous symbol: C2orf25)
  See MMADHC-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, With
Homocystinuria1 2
     cblD2
C2orf251 2 3 5     Methylmalonic Aciduria And Homocystinuria Type D Protein, Mitochondrial2
CL250222 3     Protein C2orf25, Mitochondrial2
Chromosome 2 Open Reading Frame 251     

External Ids:    HGNC: 252211   Entrez Gene: 272492   Ensembl: ENSG000001682887   OMIM: 6119355   UniProtKB: Q9H3L03   

Export aliases for MMADHC gene to outside databases

Previous GC identifers: GC02M150135 GC02M142325


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MMADHC Gene:
This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12
(cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause
methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is
characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been
identified on chromosomes 11 and X.(provided by RefSeq, Nov 2008)

GeneCards Summary for MMADHC Gene:
MMADHC (methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria) is a protein-coding gene. Diseases associated with MMADHC include homocystinuria, and methylmalonic aciduria and homocystinuria type cbld.

UniProtKB/Swiss-Prot: MMAD_HUMAN, Q9H3L0
Function: Involved in cobalamin metabolism

Gene Wiki entry for MMADHC 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the MMADHC gene promoter:
         IRF-2   AML1a   Pax-2b   MyoD   Pax-2   STAT5A   Pax-2a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMMADHC promoter sequence
   Search Chromatin IP Primers for MMADHC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MMADHC


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

Entrez Gene cytogenetic band: 2q23.2   Ensembl cytogenetic band:  2q23.2   HGNC cytogenetic band: 2q23

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M150426:  view genomic region     (about GC identifiers)

Start:
150,426,147 bp from pter      End:
150,444,330 bp from pter
Size:
18,184 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MMAD_HUMAN, Q9H3L0 (See protein sequence)
Recommended Name: Methylmalonic aciduria and homocystinuria type D protein, mitochondrial precursor  
Size: 296 amino acids; 32940 Da
Sequence caution: Sequence=AAG43124.1; Type=Frameshift; Positions=171, 178, 185, 188, 200;
Secondary accessions: B2R895 D3DP91 O95891

Explore the universe of human proteins at neXtProt for MMADHC: NX_Q9H3L0

Explore proteomics data for MMADHC at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MMADHC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_056517.1  
    ENSEMBL proteins: 
     ENSP00000301920   ENSP00000389060   ENSP00000408331  
    Reactome Protein details: Q9H3L0

    MMADHC Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR019362 MMADHC

    Graphical View of Domain Structure for InterPro Entry Q9H3L0

    ProtoNet protein and cluster: Q9H3L0


    Find genes that share domains with MMADHC           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MMAD_HUMAN, Q9H3L0
    Function: Involved in cobalamin metabolism

    Phenotypes:
         2 GenomeRNAi human phenotypes for MMADHC:

     Decreased Tat-dependent transc  Decreased p24 protein expressi 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MMADHC
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MMADHC
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MMADHC

    miRNA
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    miRTarBase miRNAs that target MMADHC:
    hsa-mir-106b-5p (MIRT044302)

    Block miRNA regulation of human, mouse, rat MMADHC using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate MMADHC:
    hsa-miR-548am hsa-miR-548x
    SwitchGear 3'UTR luciferase reporter plasmidMMADHC 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MMADHC
    Predesigned siRNA for gene silencing in human, mouse, rat MMADHC

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    OriGene ORF clones in mouse, rat for MMADHC
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    GenScript: all cDNA clones in your preferred vector: MMADHC (NM_015702)
    Sino Biological Human cDNA Clone for MMADHC
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MMADHC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MMADHC

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MMADHC


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MMAD_HUMAN, Q9H3L0: Mitochondrion (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion3
    cytosol1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with MMADHC           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for MMADHC About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    2Metabolism
    Metabolism0.38
    3Disease
    Disease


    Find genes that share SuperPaths with MMADHC           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for MMADHC
        Cobalamin (Cbl, vitamin B12) transport and metabolism
    Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MMADHC
    Interactions:

        Search GeneGlobe Interaction Network for MMADHC

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    4 Interacting proteins for MMADHC (Q9H3L03 ENSP000003019204) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MTRQ997073, ENSP000003555364I2D: score=5 STRING: ENSP00000355536
    CDAP323203I2D: score=5 
    CTSBP078583I2D: score=4 
    MTPAPENSP000002630634STRING: ENSP00000263063
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0009235cobalamin metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with MMADHC           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MMADHC (MMAD)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MMADHC gene: 
    NM_015702.2  

    Unigene Cluster for MMADHC:

    Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
    Hs.5324  [show with all ESTs]
    Unigene Representative Sequence: BF572337
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000303319(uc002txc.3) ENST00000428879 ENST00000422782 ENST00000460311

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MMADHC using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate MMADHC:
    hsa-miR-548am hsa-miR-548x
    SwitchGear 3'UTR luciferase reporter plasmidMMADHC 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for MMADHC
    Predesigned siRNA for gene silencing in human, mouse, rat MMADHC
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MMADHC (NM_015702)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MMADHC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MMADHC
    Primer
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    OriGene qPCR primer pairs and template standards for MMADHC
    OriGene qSTAR qPCR primer pairs in human, mouse for MMADHC
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MMADHC
      QuantiTect SYBR Green Assays in human, mouse, rat MMADHC
      QuantiFast Probe-based Assays in human, mouse, rat MMADHC

    Additional mRNA sequence: 

    AF060224.1 AF131802.1 AF161510.1 AK310001.1 AK313284.1 BC000932.2 BC010894.1 BC022859.1 
    BC023995.1 

    19 DOTS entries:

    DT.100859971  DT.87017011  DT.100038482  DT.100859978  DT.70103092  DT.100038483  DT.121014890  DT.100859980 
    DT.121014918  DT.100859967  DT.121014895  DT.91793536  DT.95375204  DT.100859968  DT.121014850  DT.121014901 
    DT.121014928  DT.95375194  DT.95375198 

    Selected AceView cDNA sequences (see all 1041):

    AA877327 BM788648 AA234377 BM843509 CR594994 CR626278 BP350658 BI522529 
    BP352633 BP335511 Z44369 BI857492 BP337658 BP352776 BE766222 BP336849 
    CR595331 BM806628 AA428971 AI927365 BQ227417 BU660376 BP374595 CR596944 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MMADHC (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b
    SP1:                    -     -           -                                                               
    SP2:                                                                                                      
    SP3:                    -     -                                                                           
    SP4:                    -     -                                                                           
    SP5:                                      -                                                               


    ECgene alternative splicing isoforms for MMADHC

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MMADHC expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGTTGTAGG
    MMADHC Expression
    About this image


    MMADHC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Midgut
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
    MMADHC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MMADHC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.5324

    UniProtKB/Swiss-Prot: MMAD_HUMAN, Q9H3L0
    Tissue specificity: Widely expressed at high levels

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    QuantiFast Probe-based Assays in human, mouse, rat MMADHC
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MMADHC

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for MMADHC gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mmadhc1 , 5 methylmalonic aciduria (cobalamin deficiency) cblD more1, 5 89.08(n)1
    93.58(a)1
      2 (28.92 cM)5
    1091291  NM_133839.21  NP_598600.11 
     502798815 
    chicken
    (Gallus gallus)
    Aves MMADHC1 methylmalonic aciduria (cobalamin deficiency) cblD more 78.27(n)
    83.45(a)
      424311  NM_001008477.1  NP_001008477.1 
    lizard
    (Anolis carolinensis)
    Reptilia MMADHC6
    methylmalonic aciduria (cobalamin deficiency) cblD...
    80(a)
    1 ↔ 1
    GL343302.1(301234-310166)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.77312 Xenopus laevis transcribed sequence with moderate similarity more 76.42(n)    BX843016.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.291372 Danio rerio My011 protein (My011) mRNA, complete cds 72.75(n)    AY391443.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG121186
    --
    21(a)
    1 ↔ 1
    X(9088783-9090447)
    worm
    (Caenorhabditis elegans)
    Secernentea Y76A2B.51 Y76A2B.5 51.07(n)
    39.6(a)
      176786  NM_067400.8  NP_499801.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MMADHC gene
    Selected SIMAP similar genes for MMADHC using alignment to 2 protein entries:     MMAD_HUMAN (see all proteins) (see all similar genes):
    NLRC5    SEC14L3    SNRPF    COQ5    NLN    ZNF257
    ACTR10    C12orf76    DYNC2LI1    EEF1E1    DPP9    RRM2B
    DOCK8    MST132    TUBA1C    ADCK1    PFKFB3    SEPSECS

    Find genes that share paralogs with MMADHC           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for MMADHC
    PGOHUM00000242207 PGOHUM00000241863


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MMADHC (see all 451)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0438444
    Methylmalonic aciduria and homocystinuria type cblD (MMAHCD)4--see VAR_0438442 T N mis40--------
    VAR_0438464
    Methylmalonic aciduria and homocystinuria type cblD (MMAHCD)4--see VAR_0438462 Y C mis40--------
    VAR_0438474
    Methylmalonic aciduria and homocystinuria type cblD (MMAHCD)4--see VAR_0438472 L P mis40--------
    rs611426431,2
    C--142334991(+) ATCAA-/AA/AG 
            
    GTCAT
    1 -- int12NA CSA 4
    rs130033301,2
    C,A--142337568(+) TTTTTC/TAATAC 1 -- int1 trp30--------
    rs1807794681,2
    --149827044(+) TCAAAC/TGAGGC 1 -- ds50010--------
    rs1480746571,2
    C--149827090(+) AAATT-/GAAGAAAA 1 -- cds10--------
    rs101733171,2
    C,F,H--149827195(+) ATATGT/CGTTTA 1 -- ds500125Minor allele frequency- C:0.45NS EA NA WA 2756
    rs778040541,2
    C,F--149827223(+) TTCTTC/TTTTTC 1 -- ds50014Minor allele frequency- T:0.10NA CSA WA 242
    rs1864235701,2
    --149827285(+) ATAGAA/CAATAA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for MMADHC (150426147 - 150444330 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MMADHC:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv875282CNV Loss21882294
    nsv834409CNV Gain17160897

    Human Gene Mutation Database (HGMD): MMADHC
    Locus Specific Mutation Databases (LSDB): MMADHC

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611935   
    OMIM disorders: 277410  
    UniProtKB/Swiss-Prot: MMAD_HUMAN, Q9H3L0
  • Methylmalonic aciduria and homocystinuria type cblD (MMAHCD) [MIM:277410]: A disorder of cobalamin
    metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin
    (MeCbl). Clinical features include developmental delay, hyotonia, mental retardation, seizures, megaloblastic
    anemia. Some patients manifest combined methylmalonic aciduria and homocystinuria (referred to as cblD original),
    some have only isolated homocystinuria (cblD variant 1), and others have only methylmalonic aciduria (cblD
    variant 2). Note=The disease is caused by mutations affecting the gene represented in this entry

  • 8 diseases for MMADHC:    
    About MalaCards
    homocystinuria    methylmalonic aciduria and homocystinuria type cbld    cbld    mmadhc-related methylmalonic acidemia
    homocystinuria, cbld type, variant 1    methylmalonic aciduria, cbld type, variant 2    disorders of intracellular cobalamin metabolism    methylmalonic acidemia

    2 diseases from the University of Copenhagen DISEASES database for MMADHC:
    Methylmalonic acidemia     Homocystinuria

    Find genes that share disorders with MMADHC           About GenesLikeMe

    GeneTests: MMADHC
    GeneReviews: MMADHC
    Genetic Association Database (GAD): MMADHC
    Human Genome Epidemiology (HuGE) Navigator: MMADHC (4 documents)

    Export disorders for MMADHC gene to outside databases

    (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)
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    PubMed articles for MMADHC gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with MMADHC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Gene identification for the cblD defect of vitamin B12 metabolism. (PubMed id 18385497)1, 2, 3 Coelho D.... Fowler B. (N. Engl. J. Med. 2008)
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    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. (Genome Res. 2004)
    5. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
    6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    7. Genome-wide association study of liver enzymes in korean children. (PubMed id 24124411)1 Park T.J....Lee J.Y. (amp 2013)
    8. Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism. (PubMed id 23270877)1 Mah W....Coulton J.W. (Mol. Genet. Metab. 2013)
    9. Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism. (PubMed id 22156578)1 Stucki M....Baumgartner M.R. (Hum. Mol. Genet. 2012)
    10. Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism. (PubMed id 22832074)1 Deme J.C....Coulton J.W. (Mol. Genet. Metab. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 27249 HGNC: 25221 AceView: C2orf25 Ensembl:ENSG00000168288 euGenes: HUgn27249
    ECgene: MMADHC H-InvDB: MMADHC

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MMADHC Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MMADHC[genesymbol]

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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