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MMAB - metabolism of cobalamin associated B

  • Synonym(s) : ATP:cob(I)alamin adenosyltransferase, cblB, CFAP23, cilia and flagella associated protein 23
  • Previous symbols and names : methylmalonic aciduria (cobalamin deficiency) cblB type, methylmalonic aciduria (cobalamin deficiency) type B
  • Type : gene with protein product
  • Chromosomal location : 12q24.11
  • OMIM: 607568
  • HGNC: 19331
  • UniProtKB: Q96EY8
  • Genatlas: MMAB
  • Ensembl: ENSG00000139428
  • IUPHAR-DB: -
  • Reactome: Q96EY8
  • LOVD: MMAB

Diseases list

  : Assessed

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


Additional information

Health care resources for this gene

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