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Defective CUBN causes hereditary megaloblastic anemia 1

Stable Identifier
R-HSA-3359463
Type
Pathway
Species
Homo sapiens
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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
13828999 Selective vitamin B12 malabsorption and proteinuria in young people. A syndrome Acta Med Scand 1960
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