Skip Navigation
NCI banner National Cancer Institute U.S. National Institutes of Health National Cancer Institute
Genes
  • Gene Tools
Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. MMACHC, methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
Sequence ID:NM_015506
RefSeqGene ID:NG_013378
Entrez Gene ID:25974
Ensembl ID:ENSG00000132763

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE 

Cytogenetic Location (from UniGene)

Cytogenetic Location:1p34.1Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:1: 45965855 - 45978888

NM_015506 exon info from UCSC:

Transcript StartTranscript EndChromosomal Start Chromosomal End
12304596585545966084
2314254597302745973221
4265784597388345974035
57928484597446745976736

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
3535453Full LengthBC006122methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_015506 NP_056321 Q9Y4U1  

Related Sequences

 
mRNAGenPeptSwissProt
BC006122 AAH06122 Q9Y4U1
JF432592 ADZ15809  
AL080062 CAB45693 Q9Y4U1

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens MMACHC NP_056321 M.musculus Mmachc 67096 Gene Info NP_080238 85
R.norvegicus Mmachc 313520   NP_001101432 85
C.elegans cblc-1 3565644   NP_001022524 39

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)