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Mmachc Gene Detail
Summary
  • Symbol
    Mmachc
  • Name
    methylmalonic aciduria cblC type, with homocystinuria
  • Synonyms
    1810037K07Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914346
    NCBI Gene: 67096
Location & Maps
more
  • Sequence Map
    Chr4:116702279-116708406 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      6128 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    MMACHC, methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MMACHC, methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
    Orthology source: HGNC, HomoloGene
  • Synonyms
    cblC
  • Links
    NCBI Gene ID: 25974
    neXtProt AC: NX_Q9Y4U1

  • Chr Location
    1p34.1; chr1:45500184-45511067 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human MMACHC associations

Human Disease Mouse Models
       Methylmalonic Aciduria and Homocystinuria, CblC Type   OMIM: 277400
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotype references
  • All Mutations and Alleles
    41
  • Chemically induced (other)
    2
  • Gene trapped
    36
  • Radiation induced
    1
  • Targeted
    2
  • Genomic Mutations
    4 involving Mmachc
  • Incidental Mutations
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 OTTMUSG00000009547 VEGA Gene Model | MGI Sequence Detail 6128 C57BL/6J ±  kb
transcript OTTMUST00000021860 VEGA | MGI Sequence Detail 2106 Not Applicable  
polypeptide OTTMUSP00000009973 VEGA | MGI Sequence Detail 279 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    56 from dbSNP Build 137
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000010463 methylmalonic aciduria and homocystinuria type C protein
  • InterPro Domains
    IPR032037 Methylmalonic aciduria and homocystinuria type C family
Molecular
Reagents
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  • All nucleic 7
    cDNA 6
    Primer pair 1

    Microarray probesets 2
References
more
  • Summaries
    All 25
    Developmental Gene Expression 1
    Gene Ontology 3
    Phenotypes 12
  • 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:174811 Pupavac M, et al., Expression of Mmachc and Mmadhc during mouse organogenesis. Mol Genet Metab. 2011 Aug;103(4):401-5

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory