Biallelic loss-of-function mutations in BPNT1 cause vitamin B12-dependent megaloblastic anemia - PubMed
4 hours ago
- #megaloblastic anemia
- #vitamin B12
- #BPNT1 mutations
- Biallelic loss-of-function mutations in BPNT1 cause vitamin B12-dependent megaloblastic anemia.
- BPNT1 deficiency leads to accumulation of 3'-phosphoadenosine 5'-phosphate (PAP), impairing ribosome biogenesis.
- In Bpnt1-null mice, reduced expression of the cubam receptor complex in the ileum is observed.