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Mmachc
Gene Detail
Symbol

Name
ID
Mmachc
methylmalonic aciduria cblC type, with homocystinuria
MGI:1914346
Synonyms
1810037K07Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 4
53.29 cM, cytoband C7
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr4:116702279-116708406 bp, - strand
From VEGA annotation of GRCm38

  6128 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:12082  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: MMACHC
Gene Tree: Mmachc

Human
homologs
MMACHC, methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 25974
neXtProt AC: NX_Q9Y4U1

Human Synonyms: cblC

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

Disease Associations: (1) Diseases Associated with Human MMACHC

Mutations,
alleles, and
phenotypes
All mutations/alleles(38) : Gene trapped(36) Targeted(2)
Genomic Mutations involving Mmachc (1)
Incidental mutations (data from Mutagenetix , APF )
Interactions
Mmachc interacts with 160 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (4 annotations)
Process cobalamin metabolic process
Component cytoplasm, mitochondrion
Function cobalamin binding
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (23)    Tissues (19)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 23
cDNA source data(5)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase mmachc ; ZFIN mmachc    NEW 
Molecular
reagents
All nucleic(7) cDNA(6) Primer pair(1)
Microarray probesets(2)
Other database
links
VEGA Gene Model OTTMUSG00000009547 (Evidence)
Ensembl Gene Model ENSMUSG00000028690 (Evidence)
Entrez Gene 67096 (Evidence)
DFCI TC1580217, TC1618377
DoTS DT.50316322, DT.91375565
Consensus CDS Project CCDS51278.1
International Mouse Phenotyping Consortium Status Mmachc
Sequences
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 sequences
All sequences(22) RefSeq(2) UniProt(1)
Polymorphisms
SNPs within 2kb(56 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
Protein Ontology PR:000010463 methylmalonic aciduria and homocystinuria type C protein
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:174811 Pupavac M, et al., Expression of Mmachc and Mmadhc during mouse organogenesis. Mol Genet Metab. 2011 Aug;103(4):401-5
All references(27)

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
08/25/2015
MGI 6.0
The Jackson Laboratory