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MMAA Gene

protein-coding   GIFtS: 61
GCID: GC04P146540

Methylmalonic Aciduria (Cobalamin Deficiency) CblA Type

(Previous name: methylmalonic aciduria (cobalamin deficiency) type A)
  See MMAA-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) 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 aciduria, vitamin b12-responsive. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   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 Chromatin IP Primers for MMAA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: MMAA_HUMAN, Q8IVH4 (See protein sequence)
Recommended Name: Methylmalonic aciduria type A protein, mitochondrial precursor  
Size: 418 amino acids; 46538 Da
Subunit: Homodimer
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_758454.1  
    ENSEMBL proteins: 
     ENSP00000281317   ENSP00000427422   ENSP00000442284  
    Reactome Protein details: Q8IVH4

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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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    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


    Find genes that share domains with MMAA           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: 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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005525GTP binding IEA--
    GO:0017111nucleoside-triphosphatase activity IEA--
         
    Find genes that share ontologies with MMAA           About GenesLikeMe


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

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MMAA
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    Selected qRT-PCR 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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    (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
    MMAA_HUMAN, Q8IVH4: Mitochondrion (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion4
    nucleus2
    cytosol1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with MMAA           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 MMAA 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
    2Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    Mitochondrial Fatty Acid Beta-Oxidation0.00
    Propionyl-CoA catabolism0.00
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    4Disease
    Disease


    Find genes that share SuperPaths with MMAA           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    4 Reactome Pathways for MMAA
        Propionyl-CoA catabolism
    Defective MMAA causes methylmalonic aciduria type cblA
    Cobalamin (Cbl, vitamin B12) transport and metabolism
    Defective MUT causes methylmalonic aciduria mut type


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

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

        Search GeneGlobe Interaction Network 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): Selected biological process terms (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--

    Find genes that share ontologies with MMAA           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 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)



    Find genes that share compounds with MMAA           About GenesLikeMe



    (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 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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    Selected qRT-PCR 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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    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 

    Selected AceView cDNA sequences (see all 61):

    Z44188 CR619215 CR606328 BX504447 NM_172250 AW300959 AA377266 Z45313 
    BX109608 H21391 Z41029 BQ006997 AA992623 AA442900 AW954478 BX445256 
    BG188852 AL532029 AI628082 R37153 AI243872 AA678047 BX383691 Z40169 

    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™, 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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    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

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

    MMAA Protein Expression

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

    Orthologs for MMAA gene from Selected 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 82.23(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_420429.4  XP_420429.1 
    lizard
    (Anolis carolinensis)
    Reptilia MMAA6
    methylmalonic aciduria (cobalamin deficiency) cblA...
    73(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 mmaa-1 54.71(n)
    53.19(a)
      174164  NM_001027131.4  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)
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      --

    (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 MMAA (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
    ----------
    rs2005779671,2,,4
    Methylmalonic aciduria type cblA (MMAA)4 --146346441(+) ATTTCA/GAGTAG 2 Q R mis10--------
    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--------
    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

    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: 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

  • 4 diseases for MMAA:    
    About MalaCards
    mmaa-related methylmalonic acidemia    methylmalonic aciduria, vitamin b12-responsive    methylmalonic acidemia    spondylocostal dysostosis

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

    Find genes that share disorders with MMAA           About GenesLikeMe

    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)
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    PubMed articles for MMAA gene, integrated from 10 sources (see all 19):
    (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. (Hum. Mutat. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation. (PubMed id 20876572)1, 2 Froese D.S.... Yue W.W. (J. Biol. Chem. 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. (Mol. Genet. Metab. 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. (Genome Res. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. Methylmalonic Acidemia (PubMed id 20301409)1, 7 Pagon R.A....Stephens K. (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. (J. Inherit. Metab. Dis. 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. (J. Biol. Chem. 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. (Mol. Genet. Metab. 2006)

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

      Query String
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    OMIM
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      (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: 166785 HGNC: 18871 AceView: MMAA Ensembl:ENSG00000151611 euGenes: HUgn166785
    ECgene: MMAA H-InvDB: MMAA

    (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 MMAA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MMAA Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MMAA[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 MMAA gene:
    Search GeneIP for patents involving MMAA

    GeneCards and IP:
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