Reactome: A Curated Pathway Database

Defective CUBN causes hereditary megaloblastic anemia 1

Stable Identifier
R-HSA-3359463
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
Summation

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.

Literature References
PubMed ID Title Journal Year
Participants
Participant Of
Disease
Diseases
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