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MMADHC - metabolism of cobalamin associated D

  • Synonym(s) : cblD, CL25022
  • Previous symbols and names : C2orf25, chromosome 2 open reading frame 25, methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria, methylmalonic aciduria and homocystinuria, cblD type
  • Type : gene with protein product
  • Chromosomal location : 2q23.2
  • OMIM: 611935
  • HGNC: 25221
  • UniProtKB: Q9H3L0
  • Genatlas: MMADHC
  • Ensembl: ENSG00000168288
  • IUPHAR-DB: -
  • Reactome: Q9H3L0
  • LOVD: MMADHC

Diseases list

  : Assessed

Gene included in a panel of genes performed as part of a diagnostic test


Additional information

Patient-centred resources for this gene

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