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MMAB Gene

protein-coding   GIFtS: 66
GCID: GC12M109991

Methylmalonic Aciduria (Cobalamin Deficiency) CblB Type

(Previous name: methylmalonic aciduria (cobalamin deficiency) type B)
  See 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) CblB Type1 2     ATP:Corrinoid Adenosyltransferase2
ATP:Cob(I)Alamin Adenosyltransferase1 2     cblB2
Methylmalonic Aciduria Type B Protein2 3     cob2
Methylmalonic Aciduria (Cobalamin Deficiency) Type B1     Cob(I)Yrinic Acid A,C-Diamide Adenosyltransferase, Mitochondrial2
ATR2     EC 2.5.1.173
Aquocob(I)Alamin Vitamin B12s Adenosyltransferase2     Cob(I)Alamin Adenosyltransferase3

External Ids:    HGNC: 193311   Entrez Gene: 3266252   Ensembl: ENSG000001394287   OMIM: 6075685   UniProtKB: Q96EY83   

Export aliases for MMAB gene to outside databases

Previous GC identifers: GC12U900014 GC12M109886 GC12M108455 GC12M107009


(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 MMAB Gene:
This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into
adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene
are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group.
Alternatively spliced transcript variants have been found. (provided by RefSeq, Apr 2011)

GeneCards Summary for MMAB Gene:
MMAB (methylmalonic aciduria (cobalamin deficiency) cblB type) is a protein-coding gene. Diseases associated with MMAB include methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type, and mmab-related methylmalonic acidemia. GO annotations related to this gene include cob(II)alamin reductase activity and cob(I)yrinic acid a,c-diamide adenosyltransferase activity.

summary for MMAB Gene:
ATR (Ataxia telangiectasia and Rad3 related) and ATM (Ataxia telangiectasia mutated) are closely related
kinases that are activated by DNA damage. These serine-threonine protein kinases are part of the
phosphatidylinositol 3' kinase-like kinase (PIKK) family. Upon recruitment by the DNA damage binding
proteins/complexes (ATRIP for ATR; MRN for ATM), ATM/ATR initiate the DNA damage checkpoint by
phosphorylating a number of key proteins. Once activated, the checkpoint leads to cell cycle arrest and
either DNA repair or apoptosis. ATM is activated by double stranded breaks and phosphorylates Chk2, whilst
ATR is activated by single strand breaks and phosphorylates Chk1.

Gene Wiki entry for MMAB 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:
NC_000012.12  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the MMAB gene promoter:
         SREBP-1a   SREBP-1c   SREBP-1b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMMAB promoter sequence
   Search Chromatin IP Primers for MMAB

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


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

Entrez Gene cytogenetic band: 12q24   Ensembl cytogenetic band:  12q24.11   HGNC cytogenetic band: 12q24

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M109991:  view genomic region     (about GC identifiers)

Start:
109,991,520 bp from pter      End:
110,011,679 bp from pter
Size:
20,160 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: MMAB_HUMAN, Q96EY8 (See protein sequence)
Recommended Name: Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial precursor  
Size: 250 amino acids; 27388 Da
Subunit: Homotrimer
1 PDB 3D structure from and Proteopedia for MMAB:
2IDX (3D)    
Secondary accessions: C5HU05 Q9BSH0

Explore the universe of human proteins at neXtProt for MMAB: NX_Q96EY8

Explore proteomics data for MMAB at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_443077.1  
    ENSEMBL proteins: 
     ENSP00000445920   ENSP00000474582   ENSP00000444793   ENSP00000438079   ENSP00000474981  
     ENSP00000416136   ENSP00000474881   ENSP00000266839  
    Reactome Protein details: Q96EY8

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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:
     IPR016030 AdoCbl_synth_CblAdoTrfase-like

    Graphical View of Domain Structure for InterPro Entry Q96EY8

    ProtoNet protein and cluster: Q96EY8

    1 Blocks protein domain: IPB002779 Protein of unknown function DUF80

    UniProtKB/Swiss-Prot: MMAB_HUMAN, Q96EY8
    Similarity: Belongs to the Cob(I)alamin adenosyltransferase family


    MMAB for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MMAB_HUMAN, Q96EY8
    Catalytic activity: ATP + cob(I)yrinic acid a,c-diamide = triphosphate + adenosylcob(III)yrinic acid a,c-diamide
    Catalytic activity: ATP + cobinamide = triphosphate + adenosylcobinamide

         Enzyme Number (IUBMB): EC 2.5.1.171

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
    GO:0008817cob(I)yrinic acid a,c-diamide adenosyltransferase activity TAS--
    GO:0050453cob(II)alamin reductase activity ----
         
    MMAB for ontologies           About GeneDecksing


    Animal Models:
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    Block miRNA regulation of human, mouse, rat MMAB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MMAB (see all 45):
    hsa-miR-549 hsa-miR-132* hsa-miR-3152-3p hsa-miR-607 hsa-miR-300 hsa-miR-1197 hsa-miR-4272 hsa-miR-199a-3p
    SwitchGear 3'UTR luciferase reporter plasmidMMAB 3' UTR sequence
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    (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
    MMAB_HUMAN, Q96EY8: Mitochondrion (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion4
    cytosol1
    nucleus1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix TAS--

    MMAB for ontologies           About GeneDecksing


    (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 MMAB About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Defective 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
    3Metabolism of porphyrins
    Porphyrin and chlorophyll metabolism0.56
    4Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MMAB (see all 13)
        BRCA1 Pathway
    Molecular Mechanisms of Cancer
    DNA Damage Induced 14-3-3Sigma Signaling
    G1-S Phase Transition
    p53 Mediated Apoptosis

    1 Tocris Bioscience Pathway for MMAB
        Apoptosis Pathway

    1 Reactome Pathway for MMAB
        Cobalamin (Cbl, vitamin B12) transport and metabolism


    2 Kegg Pathways  (Kegg details for MMAB):
        Porphyrin and chlorophyll metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: MMAB_HUMAN, Q96EY8
    Pathway: Cofactor biosynthesis; adenosylcobalamin biosynthesis; adenosylcobalamin from cob(II)yrinate a,c-diamide:
    step 2/7


    MMAB for pathways           About GeneDecksing

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

        Search GeneGlobe Interaction Network for MMAB

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

    Selected Interacting proteins for MMAB (Q96EY82, 3 ENSP000002668394) via UniProtKB, MINT, STRING, and/or I2D (see all 245)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    MTRRQ9UBK83, ENSP000002646684I2D: score=1 STRING: ENSP00000264668
    INSRP062133I2D: score=1 
    AARS2Q5JTZ92MINT-8079030
    AASSQ9UDR52MINT-8079030
    About this table

    Gene Ontology (GO): 5 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:0009236cobalamin biosynthetic process IEA--
    GO:0044281small molecule metabolic process TAS--

    MMAB for ontologies           About GeneDecksing



    (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 compounds at ApexBio 

    Compounds for MMAB available from Tocris Bioscience    About this table
    CompoundAction CAS #
    KU 55933Potent and selective ATM kinase inhibitor[587871-26-9]
    KU 60019Potent ATM kinase inhibitor[925701-46-8]

    10 HMDB Compounds for MMAB    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Adenosyl cobinamideadenosylcobinamide (see all 2)----
    Adenosyl cobyrinic acid a,c diamideAdenosyl cobyrinate diamide (see all 4)----
    Adenosylcobalamin(5'-Deoxy-5'-adenosyl)cobamide coenzyme (see all 15)13870-90-1--
    Cob(I)alaminVitamin B12s (see all 5)18534-66-2--
    Cob(I)yrinate a,c diamideCob(I)yrinate diamide (see all 2)----
    Cobinamidecobinamide (see all 3)13497-85-3--
    CyanocobalaminDimethylbenzimidazoylcobamide (see all 92)68-19-9--
    Manganesemanganese 7439-96-5--
    Triphosphatetriphosphate(5-) (see all 6)14127-68-5--

    2 DrugBank Compounds for MMAB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    CyanocobalaminCyanocob(III)alamin (see all 3)68-19-9enzymesubstrate16410054 16439175
    HydroxocobalaminHydroxomin (see all 2)13422-51-0targetother17139284 17016423

    4 Novoseek inferred chemical compound relationships for MMAB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenosylcobalamin 95.7 14 15347655 (3), 15308131 (1), 17410422 (1), 17300749 (1) (see all 8)
    cobalamin 89.6 12 15347655 (3), 17471589 (2), 16439175 (2), 12471062 (1) (see all 6)
    vitamin b12 73.4 3 15347655 (1), 16439175 (1), 16410054 (1)
    atp 40.1 7 15044458 (1), 17176040 (1), 19625202 (1), 15347655 (1)



    MMAB for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MMAB gene: 
    NM_052845.3  

    Unigene Cluster for MMAB:

    Methylmalonic aciduria (cobalamin deficiency) cblB type
    Hs.12106  [show with all ESTs]
    Unigene Representative Sequence: NR_038118
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000545712(uc001tov.3 uc001tou.3 uc010sxq.2) ENST00000540016
    ENST00000537496 ENST00000544051 ENST00000541763 ENST00000542390 ENST00000420167
    ENST00000503497 ENST00000536760 ENST00000537236 ENST00000266839
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    hsa-miR-549 hsa-miR-132* hsa-miR-3152-3p hsa-miR-607 hsa-miR-300 hsa-miR-1197 hsa-miR-4272 hsa-miR-199a-3p
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    Additional mRNA sequence: 

    AK295211.1 AK312598.1 BC005054.1 BC011831.2 NR_038118.1 

    9 DOTS entries:

    DT.313974  DT.100794335  DT.92429245  DT.99998435  DT.121114106  DT.121114110  DT.75102466  DT.91825977 
    DT.95375223 

    Selected AceView cDNA sequences (see all 153):

    CR619543 C04493 CR598678 BG681993 AA350851 CR609621 BE645172 BM837413 
    BQ668991 BQ671160 BC011831 BU731537 BQ684640 BQ058287 NM_052845 AI810029 
    BP345646 BU902351 BU630574 AA236579 CR593756 BE278564 CR614327 AA401501 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MMAB (see all 15)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c · 13d
    SP1:                                            -           -     -     -           -           -           -                                       
    SP2:                                            -           -     -     -           -           -                                                   
    SP3:                                      -     -           -     -     -           -           -                                                   
    SP4:                                            -           -     -     -           -           -                                                   
    SP5:                                      -     -     -     -     -     -           -           -           -                                       


    ECgene alternative splicing isoforms for MMAB

    (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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    MMAB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCGATGGCCG
    MMAB Expression
    About this image

    MMAB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MMAB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.12106

    UniProtKB/Swiss-Prot: MMAB_HUMAN, Q96EY8
    Tissue specificity: Expressed in liver and skeletal muscle

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    (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 MMAB gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mmab1 , 5 methylmalonic aciduria (cobalamin deficiency) type more1, 5 86.15(n)1
    87.01(a)1
      5 (55.99 cM)5
    776971  NM_029956.31  NP_084232.11 
     1144310345 
    chicken
    (Gallus gallus)
    Aves --
    --
    Uncharacterized protein
    64(a)
    64(a)
    many → 1
    many → 1
    AADN03013458.1(15094-18593)
    AADN03010626.1(920-4800)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.186172 Transcribed sequence with weak similarity to protein more 72.4(n)    AL920864.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mmab-16
    Protein MMAB-1 (mmab-1) mRNA, complete cds
    40(a)
    1 ↔ 1
    III(4920428-4921747) WBGene00016144


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MMAB gene
    5 SIMAP similar genes for MMAB using alignment to 7 protein entries:     MMAB_HUMAN (see all proteins):
    NRAMP1    CERS5    AURA2    NF2    FAM175A

    MMAB for paralogs           About GeneDecksing



    (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 MMAB (see all 494)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs356489321,2,,4
    C,FMethylmalonic aciduria type cblB (MMAB)4 --109797022(+) CCGGGC/TCGAGG 3 T A mis15Minor allele frequency- T:0.00NA WA 4508
    VAR_0234714
    Methylmalonic aciduria type cblB (MMAB)4--see VAR_0234712 I T mis40--------
    VAR_0172064
    Methylmalonic aciduria type cblB (MMAB)4--see VAR_0172062 R W mis40--------
    VAR_0172074
    Methylmalonic aciduria type cblB (MMAB)4--see VAR_0172072 E K mis40--------
    rs289417841,2,,4
    Cpathogenic1109796292(-) TCTGCC/TGGGCC 3 R W mis1 ese30--------
    rs1494193311,2
    --109788718(+) TCTCCA/GCAATC 2 -- ds50010--------
    rs1157890601,2
    F--109788787(+) GAAAAG/CCAATA 2 -- ds50011Minor allele frequency- C:0.02WA 118
    rs726501731,2
    C,F--109788811(+) TAAAAC/ATTGTGC 2 -- ds50011Minor allele frequency- AT:0.01NS 374
    rs1396630061,2
    --109788897(+) GCCCCA/GCCAGA 2 -- ds50010--------
    rs1444305131,2
    C--109788957(+) CATGCA/GGAATT 2 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for MMAB (109991520 - 110011679 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MMAB:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1490n71CNV Loss21882294
    nsv899514CNV Loss21882294

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

    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607568   
    OMIM disorders: 251110  
    UniProtKB/Swiss-Prot: MMAB_HUMAN, Q96EY8
  • Methylmalonic aciduria type cblB (MMAB) [MIM:251110]: A disorder of methylmalonate and cobalamin
    metabolism due to defective synthesis of adenosylcobalamin. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 10 diseases for MMAB:    
    About MalaCards
    methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type    mmab-related methylmalonic acidemia    methylmalonic aciduria, vitamin b12-responsive    methylmalonic acidemia
    ataxia telangiectasia    ataxia    coronary artery disease    tuberculosis
    multiple myeloma    myeloma

    1 disease from the University of Copenhagen DISEASES database for MMAB:
    Methylmalonic acidemia

    MMAB for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for MMAB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    methylmalonic aciduria 96 8 15308131 (1), 17410422 (1), 20159775 (1), 17176040 (1) (see all 8)
    metabolic disorder 34.9 1 17176040 (1)

    GeneTests: MMAB
    GeneReviews: MMAB
    Genetic Association Database (GAD): MMAB
    Human Genome Epidemiology (HuGE) Navigator: MMAB (9 documents)

    Export disorders for MMAB 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 MMAB gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with MMAB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant. (PubMed id 12514191)1, 2, 3, 9 Leal N.A.... Bobik T.A. (J. Biol. Chem. 2003)
    2. Identification of the gene responsible for the cblB complementation group of vitamin B(12)-dependent methylmalonic aciduria. (PubMed id 12471062)1, 2, 3, 9 Dobson C.M.... Gravel R.A. (Hum. Mol. Genet. 2002)
    3. Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. (PubMed id 15781192)1, 2, 9 Martinez M.A....Perez B. (Mol. Genet. Metab. 2005)
    4. Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PubMed id 20571754)1, 4 Fontaine-Bisson B....Franks P.W. (Diabetologia 2010)
    5. Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples. (PubMed id 20160193)1, 4 Weissglas-Volkov D....Pajukanta P. (Circ Cardiovasc Genet 2010)
    6. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    7. Biological, clinical and population relevance of 95 loci for blood lipids. (PubMed id 20686565)1, 4 Teslovich T.M....Kathiresan S. (Nature 2010)
    8. Common variants at 30 loci contribute to polygenic dyslipidemia. (PubMed id 19060906)1, 4 Kathiresan S....Cupples L.A. (Nat. Genet. 2009)
    9. Large scale replication analysis of loci associated with lipid concentrations in a Japanese population. (PubMed id 19487539)1, 4 Nakayama K....Iwamoto S. (J. Med. Genet. 2009)
    10. Novel variants at KCTD10, MVK, and MMAB genes interact with dietary carbohydrates to modulate HDL-cholesterol concentrations in the Genetics of Lipid Lowering Drugs and Diet Network Study. (PubMed id 19605566)1, 4 Junyent M....OrdovA!s J.M. (Am. J. Clin. Nutr. 2009)

    (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: 326625 HGNC: 19331 AceView: MMAB Ensembl:ENSG00000139428 euGenes: HUgn326625
    ECgene: MMAB Kegg: 326625 H-InvDB: MMAB

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for MMAB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MMAB[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 MMAB gene:
    Search GeneIP for patents involving MMAB

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



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