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Mmadhc
Gene Detail
Symbol

Name
ID
Mmadhc
methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MGI:1923786
Synonyms
2010311D03Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 2
28.92 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr2:50279881-50296801 bp, - strand
From VEGA annotation of GRCm38

  16921 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:9248  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: MMADHC
Gene Tree: Mmadhc

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

IDs:
NCBI Gene ID: 27249
neXtProt AC: NX_Q9H3L0

Human Synonyms: C2orf25, cblD, CL25022

Human Chr (Location): 2q23.2; chr2:149569633-149587816 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human MMADHC

Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Gene trapped(2) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
Interactions
Mmadhc interacts with 91 markers (Mir1b, Mir9-1, Mir9-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (4 annotations)
Process cobalamin metabolic process
Component cytoplasm, mitochondrion
Function molecular_function
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (19)    Tissues (15)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 19
cDNA source data(101)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase mmadhc ; ZFIN mmadhc    NEW 
Molecular
reagents
All nucleic(102) cDNA(101) Primer pair(1)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000012388 (Evidence)
Ensembl Gene Model ENSMUSG00000026766 (Evidence)
Entrez Gene 109129 (Evidence)
UniGene 29214
DFCI TC1575478
DoTS DT.493858
NIA Mouse Gene Index U022607
Consensus CDS Project CCDS16027.1
International Mouse Phenotyping Consortium Status Mmadhc
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012388 VEGA Gene Model | MGI Sequence Detail 16921 C57BL/6J ±  kb
transcript OTTMUST00000029482 VEGA | MGI Sequence Detail 1342 Not Applicable 
polypeptide OTTMUSP00000013275 VEGA | MGI Sequence Detail 296 Not Applicable 

For the selected sequences
All sequences(49) RefSeq(14) UniProt(3)
Polymorphisms
SNPs within 2kb(44 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR019362 Methylmalonic aciduria and homocystinuria type D protein
Protein Ontology PR:000010464 methylmalonic aciduria and homocystinuria type D protein, mitochondrial
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(29)
Other
accession IDs
MGI:2138888

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
06/23/2015
MGI 5.22
The Jackson Laboratory