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Mmaa Gene Detail
Summary
  • Symbol
    Mmaa
  • Name
    methylmalonic aciduria (cobalamin deficiency) type A
  • Synonyms
    2810018E08Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1923805
    NCBI Gene: 109136
Location & Maps
more
  • Sequence Map
    Chr8:79266424-79294956 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      28533 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    MMAA, methylmalonic aciduria (cobalamin deficiency) cblA type
  • Vertebrate Orthologs
    9
  • Human Ortholog
    MMAA, methylmalonic aciduria (cobalamin deficiency) cblA type
    Orthology source: HomoloGene
  • Synonyms
    cblA
  • Links
    NCBI Gene ID: 166785
    neXtProt AC: NX_Q8IVH4

  • Chr Location
    4q31.21; chr4:145619388-145660035 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human MMAA associations

Human Disease Mouse Models
       Methylmalonic Aciduria, CblA Type   OMIM: 251100
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotype references
  • All Mutations and Alleles
    11
  • Chemically induced (other)
    1
  • Gene trapped
    9
  • Targeted
    1
  • Genomic Mutations
    1 involving Mmaa
  • Incidental Mutations
    APF
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000037022 Ensembl Gene Model | MGI Sequence Detail 28533 C57BL/6J ±  kb
transcript ENSMUST00000048718 Ensembl | MGI Sequence Detail 2843 Not Applicable  
polypeptide ENSMUSP00000048826 Ensembl | MGI Sequence Detail 415 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    96 from dbSNP Build 137
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000010912 methylmalonic aciduria type A, mitochondrial
  • EC
  • InterPro Domains
    IPR003593 AAA+ ATPase domain
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
    IPR005129 SIMIBI class G3E GTPase, ArgK/MeaB
Molecular
Reagents
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  • All nucleic 27
    cDNA 26
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:2138332
References
more
  • Summaries
    All 26
    Developmental Gene Expression 2
    Gene Ontology 2
    Phenotypes 7
  • 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

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
02/02/2016
MGI 6.02
The Jackson Laboratory