Reactome: A Curated Pathway Database

Defective CUBN causes hereditary megaloblastic anemia 1 (R-HSA-3359463)

Species Homo sapiens


Defects in the CUBN gene cause recessive hereditary megaloblastic anemia 1 (RH-MGA1 aka MGA1 Finnish type or Imerslund-Grasbeck syndrome, I-GS; MIM:261100). The Finnish cases described by Grasbeck et al. were caused by defects in CUBN (Grasbeck et al. 1960). The resultant malabsorption of Cbl (cobalamin, vitamin B12) leads to impaired B12-dependent folate metabolism and ultimately impaired thymine synthesis and DNA replication.

Locations in the PathwayBrowser
Name Identifier Synonyms
megaloblastic anemia 13382 [megaloblastic anemia, Megaloblastic anemia (disorder), Anaemia - megaloblastic, Megaloblastic anemia NOS (disorder), Megaloblastic anaemia, ANEMIA MEGALOBLASTIC, Megaloblastic anemia NOS, Megaloblastic Anemia, Megaloblastic anemia NOS (disorder), Anaemia - megaloblastic, Megaloblastic anemia, NOS, Megaloblastic anemia NOS]
Literature References
pubMedId Title Journal Year
13828999 Selective vitamin B12 malabsorption and proteinuria in young people. A syndrome Acta Med Scand 1960