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

MMAA Gene

protein-coding   GIFtS: 62
GCID: GC04P146540

Methylmalonic Aciduria (Cobalamin Deficiency) CblA Type

(Previous name: methylmalonic aciduria (cobalamin deficiency) type A)
  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)
About This Section

Aliases
Methylmalonic Aciduria (Cobalamin Deficiency) CblA Type1 2
Methylmalonic Aciduria (Cobalamin Deficiency) Type A1
cblA2
Methylmalonic Aciduria Type A Protein, Mitochondrial2
EC 3.6.-.-3

External Ids:    HGNC: 188711   Entrez Gene: 1667852   Ensembl: ENSG000001516117   OMIM: 6074815   UniProtKB: Q8IVH43   

Export aliases for MMAA gene to outside databases

Previous GC identifers: GC04P146932 GC04P147026 GC04P147137 GC04P147118 GC04P146898 GC04P146759 GC04P142270


(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 MMAA Gene:
The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is
used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity
of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. (provided by RefSeq, Jul
2008)

GeneCards Summary for MMAA Gene: 
MMAA (methylmalonic aciduria (cobalamin deficiency) cblA type) is a protein-coding gene. Diseases associated with MMAA include mmaa-related methylmalonic acidemia, and methylmalonic acidemia, and among its related super-pathways are Metabolism of water-soluble vitamins and cofactors and Metabolic pathways. GO annotations related to this gene include nucleoside-triphosphatase activity and GTP binding.

UniProtKB/Swiss-Prot: MMAA_HUMAN, Q8IVH4
Function: Probable GTPase. May function as chaperone. May be involved in the transport of cobalamin (Cbl) into
mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis

Gene Wiki entry for MMAA 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MMAA gene promoter:
         Max1   USF1   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   Cdc5   Evi-1   GATA-1   USF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MMAA promoter sequence
   Search SABiosciences Chromatin IP Primers for MMAA

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


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

Entrez Gene cytogenetic band: 4q31.21   Ensembl cytogenetic band:  4q31.21   HGNC cytogenetic band: 4q31.1

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P146540:  view genomic region     (about GC identifiers)

Start:
146,539,415 bp from pter      End:
146,581,187 bp from pter
Size:
41,773 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MMAA_HUMAN, Q8IVH4 (See protein sequence)
Recommended Name: Methylmalonic aciduria type A protein, mitochondrial precursor  
Size: 418 amino acids; 46538 Da
Subunit: Homodimer
Subcellular location: Mitochondrion (Probable)
1 PDB 3D structure from and Proteopedia for MMAA:
2WWW (3D)    
Secondary accessions: B3KX40 Q495G7

Explore the universe of human proteins at neXtProt for MMAA: NX_Q8IVH4

Explore proteomics data for MMAA at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IVH4

  • MMAA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MMAA Protein Expression
    REFSEQ proteins: NP_758454.1  
    ENSEMBL proteins: 
     ENSP00000281317   ENSP00000427422   ENSP00000442284  
    Reactome Protein details: Q8IVH4
    Human Recombinant Protein Products for MMAA: 
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    OriGene Protein Over-expression Lysate for MMAA
    OriGene MassSpec for MMAA 
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    GenScript Custom Purified and Recombinant Proteins Services for MMAA
    Novus Biologicals MMAA Proteins
    Novus Biologicals MMAA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MMAA 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    MMAA for ontologies           About GeneDecksing



    MMAA Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for MMAA 

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    Cloud-Clone Corp. ELISAs for MMAA 
    Cloud-Clone Corp. CLIAs for MMAA


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR005129 ArgK
     IPR027417 P-loop_NTPase
     IPR003593 AAA+_ATPase

    Graphical View of Domain Structure for InterPro Entry Q8IVH4

    ProtoNet protein and cluster: Q8IVH4

    1 Blocks protein domain: IPB005129 ArgK protein

    UniProtKB/Swiss-Prot: MMAA_HUMAN, Q8IVH4
    Similarity: Belongs to the ArgK family


    MMAA 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MMAA_HUMAN, Q8IVH4
    Function: Probable GTPase. May function as chaperone. May be involved in the transport of cobalamin (Cbl) into
    mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis

         Enzyme Number (IUBMB): EC 3.6.-.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005525GTP binding IEA--
    GO:0017111nucleoside-triphosphatase activity IEA--
         
    MMAA for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MMAA:
     Increased G1 DNA content  S arrest 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MMAA 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MMAA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MMAA 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MMAA 

    miRNA
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    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate MMAA (see all 21):
    hsa-miR-875-3p hsa-miR-330-5p hsa-miR-548s hsa-miR-3159 hsa-miR-204 hsa-miR-326 hsa-miR-186 hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidMMAA 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MMAA About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors1.00
    Metabolism of vitamins and cofactors1.00
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    3Propionyl-CoA catabolism
    Propionyl-CoA catabolism0.60
    4Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
    Mitochondrial Fatty Acid Beta-Oxidation0.53
    5Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Fatty acid, triacylglycerol, and ketone body metabolism0.52

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5/8        Reactome Pathways for MMAA (see all 8)
        Metabolism
    Metabolism of vitamins and cofactors
    Fatty acid, triacylglycerol, and ketone body metabolism
    Mitochondrial Fatty Acid Beta-Oxidation
    Propionyl-CoA catabolism


    UniProtKB/Swiss-Prot: MMAA_HUMAN, Q8IVH4
    Pathway: Cofactor biosynthesis; adenosylcobalamin biosynthesis


    MMAA for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for MMAA (Q8IVH43 ENSP000002813174) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MUTP220333, ENSP000002748134I2D: score=1 STRING: ENSP00000274813
    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:0006635fatty acid beta-oxidation TAS--
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0009235cobalamin metabolic process TAS--
    GO:0009236cobalamin biosynthetic process IEA--

    MMAA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MMAA for compounds           About GeneDecksing

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

    Browse Tocris compounds for MMAA

    3 HMDB Compounds for MMAA    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosylcobalamin(5'-Deoxy-5'-adenosyl)cobamide coenzyme (see all 15)13870-90-1--
    Cobalamin5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole (see all 15)13408-78-1--
    CyanocobalaminDimethylbenzimidazoylcobamide (see all 92)68-19-9--

    2 DrugBank Compounds for MMAA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    CyanocobalaminCyanocob(III)alamin (see all 3)68-19-9targetcofactor16697227 17139284 17016423 15523652
    HydroxocobalaminHydroxomin (see all 2)13422-51-0targetother/unknown20301409 17139284 17016423

    2 Novoseek inferred chemical compound relationships for MMAA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenosylcobalamin 91.6 2 15523652 (2)
    vitamin b12 65.5 2 15523652 (1), 16697227 (1)

    Search CenterWatch for drugs/clinical trials and news about MMAA

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MMAA gene: 
    NM_172250.2  

    Unigene Cluster for MMAA:

    Methylmalonic aciduria (cobalamin deficiency) cblA type
    Hs.452864  [show with all ESTs]
    Unigene Representative Sequence: NM_172250
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000281317(uc003ikh.4 uc010iow.3) ENST00000506919 ENST00000511969
    ENST00000503730 ENST00000541599
    miRNA
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    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate MMAA (see all 21):
    hsa-miR-875-3p hsa-miR-330-5p hsa-miR-548s hsa-miR-3159 hsa-miR-204 hsa-miR-326 hsa-miR-186 hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidMMAA 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: MMAA (NM_172250)
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MMAA
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MMAA

    Additional mRNA sequence: 

    AK094722.1 AK126662.1 BC101178.2 BC101179.2 BC101180.2 BC101181.2 

    5 DOTS entries:

    DT.212440  DT.212441  DT.40126437  DT.100812305  DT.121217099 

    24/61 AceView cDNA sequences (see all 61):

    AA992623 AW300959 BX504447 H21391 BX109608 NM_172250 AA442900 Z44188 
    Z41029 CR619215 Z45313 CR606328 AA377266 BQ006997 BX445256 AI243872 
    Z40169 R37153 H46730 AK126662 AW954478 BX383691 AK094722 BG188852 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for MMAA    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
    SP1:                                                            
    SP2:                                      -                     
    SP3:                                                            


    ECgene alternative splicing isoforms for MMAA

    (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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.452864

    UniProtKB/Swiss-Prot: MMAA_HUMAN, Q8IVH4
    Tissue specificity: Widely expressed. Highest expression is observed in liver and skeletal muscle

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MMAA

    (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 animals.

    Orthologs for MMAA gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mmaa1 , 5 methylmalonic aciduria (cobalamin deficiency) type more1, 5 82.31(n)1
    81.91(a)1
      8 (37.51 cM)5
    1091361  NM_133823.41  NP_598584.21 
     792664245 
    chicken
    (Gallus gallus)
    Aves MMAA1 methylmalonic aciduria (cobalamin deficiency) cblA more 74.75(n)
    76.98(a)
      422464  XM_420429.3  XP_420429.1 
    lizard
    (Anolis carolinensis)
    Reptilia MMAA6
    methylmalonic aciduria (cobalamin deficiency) cblA...
    74(a)
    1 ↔ 1
    5(117775344-117789726)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.188242 Transcribed sequence with weak similarity to protein more 73.2(n)    BX770317.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.95062 Transcribed sequence with weak similarity to protein more 74.81(n)    CA472161.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mmaa-11 Protein MMAA-1 54.71(n)
    53.19(a)
      174164  NM_001027131.3  NP_001022302.1 


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

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

    (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) 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

    10/762 SNPs in MMAA are shown (see all 762)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0172024
    Methylmalonic aciduria type cblA (MMAA)4--see VAR_0172022 Y C mis40--------
    VAR_0208354
    Methylmalonic aciduria type cblA (MMAA)4--see VAR_0208352 L P mis40--------
    VAR_0208374
    Methylmalonic aciduria type cblA (MMAA)4--see VAR_0208372 G E mis40--------
    VAR_0388044
    Methylmalonic aciduria type cblA (MMAA)4--see VAR_0388042 R G mis40--------
    VAR_0208384
    Methylmalonic aciduria type cblA (MMAA)4--see VAR_0208382 R Q mis40--------
    rs2005779671,2,4
    Methylmalonic aciduria type cblA (MMAA)4 --146346441(+) ATTTCA/GAGTAG 2 Q R mis10--------
    rs1048938461,2
    Cpathogenic1146346290(+) TAATCC/TAAGGG 2 Q * stg10--------
    rs1048938511,2
    C,Fpathogenic1146346440(+) CATTTC/TGAGTA 2 R * stg12Minor allele frequency- T:0.00NA EU 5715
    rs1048938491,2
    Cpathogenic1146352911(+) TGCATA/GCATCA 2 Y C mis10--------
    rs1133942221,2
    C--142283872(+) AATTC-/TTTTTT 1 -- int11Minor allele frequency- T:0.00CSA 2

    HapMap Linkage Disequilibrium report for MMAA (146539415 - 146581187 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MMAA:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv830105CNV Loss17160897
    nsv880237CNV Gain21882294


    Human Gene Mutation Database (HGMD): MMAA

    Locus Specific Mutation Databases (LSDB): MMAA
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607481   
    OMIM disorders: 251100  
    UniProtKB/Swiss-Prot: MMAA_HUMAN, Q8IVH4
  • Methylmalonic aciduria type cblA (MMAA) [MIM:251100]: 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

  • 9 diseases for MMAA:    About MalaCards
    mmaa-related methylmalonic acidemia    methylmalonic acidemia    spondylocostal dysostosis    dysostosis
    megaloblastic anemia    homocystinuria    tuberculosis    cystic fibrosis
    anemia

    4 diseases from the University of Copenhagen DISEASES database for MMAA:
    Methylmalonic acidemia     Cystic fibrosis     Homocystinuria     Megaloblastic anemia

    MMAA for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for MMAA gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    methylmalonic aciduria 90.3 2 16641088 (1), 15523652 (1)

    GeneTests: MMAA
    GeneReviews: MMAA
    Genetic Association Database (GAD): MMAA

    Export disorders for MMAA 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)
    About This Section

    PubMed articles for MMAA gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with MMAA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the MMAA gene in patients with the cblA disorder of vitamin B(12) metabolism. (PubMed id 15523652)1, 2, 7, 9 Lerner-Ellis J.P.... Rosenblatt D.S. (2004)
    2. Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. (PubMed id 12438653)1, 2, 3, 9 Dobson C.M.... Gravel R.A. (2002)
    3. Structures of the human GTPase MMAA and vitamin B12-d ependent methylmalonyl-CoA mutase and insight into their complex formation. (PubMed id 20876572)1, 2 Froese D.S....Yue W.W. (2010)
    4. Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation. (PubMed id 15308131)1, 2 Yang X.... Ohura T. (2004)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Methylmalonic Acidemia (PubMed id 20301409)1, 7 Manoli I. and Venditti C.P. (1993)
    8. Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. (PubMed id 17957493)1, 9 Merinero B....Ugarte M. (2008)
    9. Energetics of interaction between the G-protein chaperone, MeaB, and B12-dependent methylmalonyl-CoA mutase. (PubMed id 16641088)1, 9 Padovani D....Banerjee R. (2006)
    10. Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria. (PubMed id 16697227)7, 9 Dobson C.M....Gravel R.A. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 166785 HGNC: 18871 AceView: MMAA Ensembl:ENSG00000151611 euGenes: HUgn166785
    ECgene: MMAA H-InvDB: MMAA

    (According to HUGE)
    About This Section
      --

    (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 MMAA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MMAA Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MMAA

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

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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