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] See more...

Aliases for MMAA Gene

Aliases for MMAA Gene

  • Metabolism Of Cobalamin Associated A 2 3 5
  • Methylmalonic Aciduria (Cobalamin Deficiency) CblA Type 2 3
  • Methylmalonic Aciduria Type A Protein, Mitochondrial 3 4
  • CblA 2 3
  • Methylmalonic Aciduria (Cobalamin Deficiency) Type A 2
  • Mutant Adenosylcobalamin 3
  • EC 3.6.-.- 4
  • MMAA 5

External Ids for MMAA Gene

Previous GeneCards Identifiers for MMAA Gene

  • GC04P146932
  • GC04P147026
  • GC04P147137
  • GC04P147118
  • GC04P146898
  • GC04P146759
  • GC04P146540
  • GC04P142270
  • GC04P145618
  • GC04P145604

Summaries for MMAA Gene

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 (Metabolism Of Cobalamin Associated A) is a Protein Coding gene. Diseases associated with MMAA include Methylmalonic Aciduria, Cbla Type and Adenosylcobalamin Deficiency. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Cobalamin (Cbl, vitamin B12) transport and metabolism. Gene Ontology (GO) annotations related to this gene include GTP binding and hydrolase activity. An important paralog of this gene is MMUT.

UniProtKB/Swiss-Prot Summary for MMAA Gene

  • GTPase, binds and hydrolyzes GTP (PubMed:28497574, PubMed:20876572, PubMed:21138732, PubMed:28943303). Involved in intracellular vitamin B12 metabolism, mediates the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis (PubMed:28497574, PubMed:20876572). Functions as a G-protein chaperone that assists AdoCbl cofactor delivery from MMAB to the methylmalonyl-CoA mutase (MMUT) (PubMed:28497574, PubMed:20876572). Plays a dual role as both a protectase and a reactivase for MMUT (PubMed:21138732, PubMed:28943303). Protects MMUT from progressive inactivation by oxidation by decreasing the rate of the formation of the oxidized inactive cofactor hydroxocobalamin (OH2Cbl) (PubMed:21138732, PubMed:28943303). Additionally acts a reactivase by promoting the replacement of OH2Cbl by the active cofactor AdoCbl, restoring the activity of MMUT in the presence and hydrolysis of GTP (PubMed:21138732, PubMed:28943303).

Gene Wiki entry for MMAA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MMAA Gene

Genomics for MMAA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MMAA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J145639 Promoter/Enhancer 0.5 EPDnew Ensembl 250.3 +40.1 40059 0.2 MMAA C4orf51 ENSG00000248356 NCOA4P3
GH04J145617 Promoter/Enhancer 1.9 Ensembl ENCODE CraniofacialAtlas 30.1 +20.4 20413 3.6 BCLAF1 SP1 ZNF207 MYC KLF9 POLR2A ZNF223 ATF3 NFIC ZIC2 MMAA ENSG00000248356 SLC10A7 OTUD4 LSM6 NCOA4P3 LINC02491 C4orf51
GH04J145623 Enhancer 0.9 FANTOM5 Ensembl ENCODE 30.9 +25.9 25858 3 JUND NR2C1 SPI1 NR2F1 ZNF133 TCF12 PKNOX1 MTA2 NBN PAX8 NCOA4P3 MMAA ENSG00000248356 C4orf51 ZNF827 LINC02491
GH04J145609 Enhancer 0.8 Ensembl ENCODE 22.7 +10.8 10759 1.6 ZNF654 CEBPA CEBPB TRIM22 CTCF RAD21 SMC3 YY1 CEBPG TBL1XR1 MMAA LINC02491 NCOA4P3 C4orf51
GH04J145679 Enhancer 0.8 Ensembl ENCODE 18.7 +81.2 81154 2 FOXA2 JUND ZNF189 GLIS1 BHLHE40 SP7 ZNF366 ZSCAN21 ZNF629 OSR2 C4orf51 MMAA ENSG00000248356 piR-56133-173 ZNF827
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MMAA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MMAA

Top Transcription factor binding sites by QIAGEN in the MMAA gene promoter:
  • Cdc5
  • Evi-1
  • GATA-1
  • Max1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • USF-1
  • USF1

Genomic Locations for MMAA Gene

Latest Assembly
chr4:145,599,042-145,660,033
(GRCh38/hg38)
Size:
60,992 bases
Orientation:
Plus strand

Previous Assembly
chr4:146,540,537-146,581,185
(GRCh37/hg19 by Entrez Gene)
Size:
40,649 bases
Orientation:
Plus strand

chr4:146,539,415-146,581,187
(GRCh37/hg19 by Ensembl)
Size:
41,773 bases
Orientation:
Plus strand

Genomic View for MMAA Gene

Genes around MMAA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MMAA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MMAA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MMAA Gene

Proteins for MMAA Gene

  • Protein details for MMAA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IVH4-MMAA_HUMAN
    Recommended name:
    Methylmalonic aciduria type A protein, mitochondrial
    Protein Accession:
    Q8IVH4
    Secondary Accessions:
    • B3KX40
    • Q495G7

    Protein attributes for MMAA Gene

    Size:
    418 amino acids
    Molecular mass:
    46538 Da
    Quaternary structure:
    • Homodimer (PubMed:20876572). Interacts with MMUT (the apoenzyme form); the interaction is GTP dependent (PubMed:20876572, PubMed:28497574, PubMed:21138732, PubMed:28943303).

    Three dimensional structures from OCA and Proteopedia for MMAA Gene

neXtProt entry for MMAA Gene

Post-translational modifications for MMAA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MMAA Gene

Domains & Families for MMAA Gene

Gene Families for MMAA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for MMAA Gene

InterPro:
Blocks:
  • ArgK protein

Suggested Antigen Peptide Sequences for MMAA Gene

GenScript: Design optimal peptide antigens:
  • Methylmalonic aciduria type A protein, mitochondrial (MMAA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IVH4

UniProtKB/Swiss-Prot:

MMAA_HUMAN :
  • Belongs to the SIMIBI class G3E GTPase family. ArgK/MeaB subfamily.
Family:
  • Belongs to the SIMIBI class G3E GTPase family. ArgK/MeaB subfamily.
genes like me logo Genes that share domains with MMAA: view

Function for MMAA Gene

Molecular function for MMAA Gene

UniProtKB/Swiss-Prot Function:
GTPase, binds and hydrolyzes GTP (PubMed:28497574, PubMed:20876572, PubMed:21138732, PubMed:28943303). Involved in intracellular vitamin B12 metabolism, mediates the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis (PubMed:28497574, PubMed:20876572). Functions as a G-protein chaperone that assists AdoCbl cofactor delivery from MMAB to the methylmalonyl-CoA mutase (MMUT) (PubMed:28497574, PubMed:20876572). Plays a dual role as both a protectase and a reactivase for MMUT (PubMed:21138732, PubMed:28943303). Protects MMUT from progressive inactivation by oxidation by decreasing the rate of the formation of the oxidized inactive cofactor hydroxocobalamin (OH2Cbl) (PubMed:21138732, PubMed:28943303). Additionally acts a reactivase by promoting the replacement of OH2Cbl by the active cofactor AdoCbl, restoring the activity of MMUT in the presence and hydrolysis of GTP (PubMed:21138732, PubMed:28943303).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; Evidence={ECO:0000269|PubMed:20876572, ECO:0000269|PubMed:21138732, ECO:0000269|PubMed:28497574, ECO:0000269|PubMed:28943303};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=42 uM for GTP {ECO:0000269|PubMed:28497574}; KM=330 uM for GTP {ECO:0000269|PubMed:20876572}; KM=74 uM for GTP (in presence of MMUT) {ECO:0000269|PubMed:20876572}; Note=kcat is 0.201 min(-1) for GTP hydrolysis (PubMed:28497574). kcat is 0.03 min(-1) for GTP hydrolysis (PubMed:20876572). {ECO:0000269|PubMed:20876572, ECO:0000269|PubMed:28497574};
UniProtKB/Swiss-Prot EnzymeRegulation:
GTPase activity is stimulated by MMUT.

Enzyme Numbers (IUBMB) for MMAA Gene

Phenotypes From GWAS Catalog for MMAA Gene

Gene Ontology (GO) - Molecular Function for MMAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA,IMP 28497574
GO:0005515 protein binding IPI 20876572
GO:0005525 GTP binding IEA,IDA 20876572
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with MMAA: view
genes like me logo Genes that share phenotypes with MMAA: view

Human Phenotype Ontology for MMAA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MMAA

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MMAA Gene

Localization for MMAA Gene

Subcellular locations from UniProtKB/Swiss-Prot for MMAA Gene

Mitochondrion. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MMAA gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MMAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 28943303
GO:0005739 mitochondrion IEA,IDA 28943303
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with MMAA: view

Pathways & Interactions for MMAA Gene

genes like me logo Genes that share pathways with MMAA: view

UniProtKB/Swiss-Prot Q8IVH4-MMAA_HUMAN

  • Pathway: Cofactor biosynthesis; adenosylcobalamin biosynthesis.

Interacting Proteins for MMAA Gene

Gene Ontology (GO) - Biological Process for MMAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009235 cobalamin metabolic process TAS 28497574
GO:0009236 cobalamin biosynthetic process IEA --
GO:0019626 short-chain fatty acid catabolic process TAS --
genes like me logo Genes that share ontologies with MMAA: view

No data available for SIGNOR curated interactions for MMAA Gene

Drugs & Compounds for MMAA Gene

(5) Drugs for MMAA Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydroxocobalamin Approved Pharma Target, other/unknown 463
Cyanocobalamin Approved Nutra Target, binder 465
Cobamamide Approved Pharma 0
Cobalamin Experimental Pharma 465
genes like me logo Genes that share compounds with MMAA: view

Transcripts for MMAA Gene

mRNA/cDNA for MMAA Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MMAA

Alternative Splicing Database (ASD) splice patterns (SP) for MMAA Gene

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

Relevant External Links for MMAA Gene

GeneLoc Exon Structure for
MMAA

Expression for MMAA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MMAA Gene

mRNA differential expression in normal tissues according to GTEx for MMAA Gene

This gene is overexpressed in Liver (x4.6).

Protein differential expression in normal tissues from HIPED for MMAA Gene

This gene is overexpressed in Heart (25.2) and Gallbladder (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MMAA Gene



Protein tissue co-expression partners for MMAA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MMAA

SOURCE GeneReport for Unigene cluster for MMAA Gene:

Hs.452864

mRNA Expression by UniProt/SwissProt for MMAA Gene:

Q8IVH4-MMAA_HUMAN
Tissue specificity: Widely expressed. Highest expression is observed in liver and skeletal muscle.

Evidence on tissue expression from TISSUES for MMAA Gene

  • Nervous system(4.5)
  • Liver(4.5)
  • Blood(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MMAA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • head
Thorax:
  • esophagus
  • lung
Abdomen:
  • liver
  • stomach
General:
  • blood
  • bone marrow
  • coagulation system
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with MMAA: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for MMAA Gene

Orthologs for MMAA Gene

This gene was present in the common ancestor of animals.

Orthologs for MMAA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MMAA 29 30
  • 99.76 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MMAA 29 30
  • 91.99 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MMAA 29 30
  • 89.61 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MMAA 30
  • 83 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Mmaa 29 16 30
  • 82.23 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mmaa 29
  • 80.96 (n)
Oppossum
(Monodelphis domestica)
Mammalia MMAA 30
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MMAA 29 30
  • 74.75 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MMAA 30
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mmaa 29
  • 72.6 (n)
Str.18824 29
Zebrafish
(Danio rerio)
Actinopterygii mmaa 29 30
  • 63.36 (n)
OneToOne
Dr.9506 29
Worm
(Caenorhabditis elegans)
Secernentea mmaa-1 29 30
  • 54.71 (n)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.722 29
Species where no ortholog for MMAA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MMAA Gene

ENSEMBL:
Gene Tree for MMAA (if available)
TreeFam:
Gene Tree for MMAA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MMAA: view image
Alliance of Genome Resources:
Additional Orthologs for MMAA

Paralogs for MMAA Gene

Paralogs for MMAA Gene

genes like me logo Genes that share paralogs with MMAA: view

Variants for MMAA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MMAA Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
1017806 Uncertain Significance: Vitamin B12-responsive methylmalonic acidemia type cblA 145,655,312(+) T/C
NM_172250.3(MMAA):c.1135T>C (p.Phe379Leu)
MISSENSE
1029265 Uncertain Significance: Vitamin B12-responsive methylmalonic acidemia type cblA 145,655,334(+) G/A
NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln)
MISSENSE
1034449 Uncertain Significance: Vitamin B12-responsive methylmalonic acidemia type cblA 145,639,486(+) A/G
NM_172250.3(MMAA):c.347A>G (p.Lys116Arg)
MISSENSE
848322 Likely Pathogenic: Vitamin B12-responsive methylmalonic acidemia type cblA 145,653,993(+) G/C
NM_172250.3(MMAA):c.820-1G>C
SPLICE_ACCEPTOR
849500 Pathogenic: Vitamin B12-responsive methylmalonic acidemia type cblA 145,651,089(+) C/CT
NM_172250.3(MMAA):c.762dup (p.Asp255Ter)
NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MMAA Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MMAA Gene

Variant ID Type Subtype PubMed ID
nsv830105 CNV loss 17160897

Variation tolerance for MMAA Gene

Residual Variation Intolerance Score: 14.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.80; 66.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MMAA Gene

Human Gene Mutation Database (HGMD)
MMAA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MMAA
Leiden Open Variation Database (LOVD)
MMAA

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MMAA Gene

Disorders for MMAA Gene

MalaCards: The human disease database

(22) MalaCards diseases for MMAA Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
methylmalonic aciduria, cbla type
  • methylmalonic acidemia, cbla type
adenosylcobalamin deficiency
  • defect in the transport or synthesis of adenosyl-cobalamin
methylmalonic acidemia
  • methylmalonic aciduria
isolated methylmalonic acidemia
  • isolated methylmalonic aciduria
propionic acidemia
  • propionyl-coa carboxylase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search MMAA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MMAA_HUMAN
  • Methylmalonic aciduria type cblA (MMAA) [MIM:251100]: A disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. {ECO:0000269 PubMed:12438653, ECO:0000269 PubMed:15308131, ECO:0000269 PubMed:15523652, ECO:0000269 PubMed:17957493, ECO:0000269 PubMed:20876572, ECO:0000269 PubMed:23026888, ECO:0000269 PubMed:28497574}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for MMAA

genes like me logo Genes that share disorders with MMAA: view

No data available for Genatlas for MMAA Gene

Publications for MMAA Gene

  1. Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. (PMID: 15523652) Lerner-Ellis JP … Rosenblatt DS (Human mutation 2004) 3 4 22 25 72
  2. Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. (PMID: 12438653) Dobson CM … Gravel RA (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 4 22 72
  3. Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. (PMID: 17957493) Merinero B … Ugarte M (Journal of inherited metabolic disease 2008) 3 4 22 72
  4. Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria. (PMID: 28497574) Plessl T … Froese DS (Human mutation 2017) 3 4 72
  5. High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria. (PMID: 23026888) Dempsey-Nunez L … Rosenblatt DS (Molecular genetics and metabolism 2012) 3 4 72

Products for MMAA Gene

Sources for MMAA Gene