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Methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
Available structures
PDB Ortholog search: PDBe, RCSB
Symbols MMACHC ; cblC
External IDs OMIM609831 MGI1914346 HomoloGene12082 GeneCards: MMACHC Gene
Species Human Mouse
Entrez 25974 67096
Ensembl ENSG00000132763 ENSMUSG00000028690
UniProt Q9Y4U1 Q9CZD0
RefSeq (mRNA) NM_015506 NM_025962
RefSeq (protein) NP_056321 NP_080238
Location (UCSC) Chr 1:
45.5 – 45.51 Mb
Chr 4:
116.7 – 116.71 Mb
PubMed search [1] [2]