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Mmaa
Gene Detail
 Symbol
Name
ID
Mmaa
methylmalonic aciduria (cobalamin deficiency) type A
MGI:1923805
Synonyms 2810018E08Rik
Feature Type protein coding gene
Genetic Map
Chromosome 8
37.51 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr8:79266424-79294956 bp, - strand
From NCBI annotation of GRCm38

  28533 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:14586  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Mmaa

Human
homologs
Human Homolog MMAA, methylmalonic aciduria (cobalamin deficiency) cblA type
NCBI Gene ID 166785
neXtProt AC  NX_Q8IVH4
Human Synonyms  cblA
Human Chr (Location)  4q31.21; chr4:145619388-145660035 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human MMAA
Alleles
and
phenotypes
All alleles(10) : Gene trapped(9) Targeted(1)
Incidental mutations (data from APF )
Gene Ontology
(GO)
classifications
All GO classifications: (5 annotations)
Process biological_process
Component mitochondrion
Function GTP binding, hydrolase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
cDNA source data(25)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(25) cDNA(25)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000037022 (Evidence)
Entrez Gene109136 (Evidence)
UniGene26510
DFCITC1578414, TC1684719
DoTSDT.484690
NIA Mouse Gene IndexU093050
EC3.6.-.-
Consensus CDS ProjectCCDS22436.1
International Mouse Knockout Project StatusMmaa
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 109136 NCBI Gene Model | MGI Sequence Detail 28533 C57BL/6J ±  kb
transcript NM_133823 RefSeq | MGI Sequence Detail 2843 C57BL/6 
polypeptide Q8C7H1 UniProt | EBI | MGI Sequence Detail 415 Not Applicable 

For the selected sequences
All sequences(29) RefSeq(14) UniProt(1)
Polymorphisms SNPs within 2kb(96 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003593 AAA+ ATPase domain
InterPro IPR005129 ArgK protein
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
Protein Ontology PR:000010912 methylmalonic aciduria type A, mitochondrial
Graphical View of Protein Domain Structure
References (Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:190313 Moreno-Garcia MA, et al., The methylmalonic aciduria related genes, Mmaa, Mmab, and Mut, are broadly expressed in placental and embryonic tissues during mouse organogenesis. Mol Genet Metab. 2012 Nov;107(3):368-74
All references(29)
Other
accession IDs
MGI:2138332

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory