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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
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:116559631-116565582 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 53.29 cM, cytoband C7
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    173 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914346
 protein coding gene Chr4:116559476-116565603 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028632
 protein coding gene Chr4:117618634-117624868 (-)
A/J MGP_AJ_G0028593
 protein coding gene Chr4:113103082-113108969 (-)
AKR/J MGP_AKRJ_G0028543
 protein coding gene Chr4:115551553-115557268 (-)
BALB/cJ MGP_BALBcJ_G0028614
 protein coding gene Chr4:113730150-113738597 (-)
C3H/HeJ MGP_C3HHeJ_G0028328
 protein coding gene Chr4:117119904-117126944 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029055
 protein coding gene Chr4:122169520-122176286 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026339
 protein coding gene Chr4:107143283-107149160 (-)
CAST/EiJ MGP_CASTEiJ_G0027762
 protein coding gene Chr4:114347592-114353246 (-)
CBA/J MGP_CBAJ_G0028295
 protein coding gene Chr4:125479863-125488241 (-)
DBA/2J MGP_DBA2J_G0028443
 protein coding gene Chr4:113736680-113745589 (-)
FVB/NJ MGP_FVBNJ_G0028411
 protein coding gene Chr4:112237599-112243844 (-)
LP/J MGP_LPJ_G0028545
 protein coding gene Chr4:117820661-117826459 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028438
 protein coding gene Chr4:130469988-130477676 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029092
 protein coding gene Chr4:116704381-116710132 (-)
PWK/PhJ MGP_PWKPhJ_G0027488
 protein coding gene Chr4:110514012-110520699 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027311
 protein coding gene Chr4:112976872-112983447 (-)
WSB/EiJ MGP_WSBEiJ_G0027841
 protein coding gene Chr4:116579152-116585225 (-)



Homology
more
  • Human Ortholog
    MMACHC, metabolism of cobalamin associated C
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MMACHC, metabolism of cobalamin associated C
  • Synonyms
    cblC
  • Links
    NCBI Gene ID: 25974
    neXtProt AC: NX_Q9Y4U1
    UniProt: Q9Y4U1

  • Chr Location
    1p34.1; chr1:45500300-45513382 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Mmachc mouse models; 1 with human MMACHC associations

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    40 phenotypes from 5 alleles in 7 genetic backgrounds
    3 phenotypes from multigenic genotypes
    23 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous null mice exhibit embryonic lethality before implantation while cultured embryos show delayed blastocyst formation and inability to hatch from the zona and generate giant cells in outgrowth assays. Female heterozygotes show high plasma levels of homocysteine and methylmalonic acid.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    28
  • GO References
    10
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    755
  • Tissues
    33
  • cDNA Data
    6
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 67096 NCBI Gene Model | MGI Sequence Detail 5952 C57BL/6J ±  kb
    transcript NM_025962 RefSeq | MGI Sequence Detail 1950 C57BL/6  
    polypeptide Q9CZD0 UniProt | EBI | MGI Sequence Detail 279 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 9
      cDNA 7
      Primer pair 2

      Microarray probesets 2
    References
    more
    • Summaries
      All 52
      Developmental Gene Expression 6
      Diseases 1
      Gene Ontology 10
      Phenotypes 23
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    10/29/2024
    MGI 6.24     		The Jackson Laboratory