amnionless protein (AMN)
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Function
- necessary for efficient absorption of vitamin B12
- may direct production of trunk mesoderm during development by modulating a bone morphogenetic protein (BMP) signaling in the underlying visceral endoderm
- interacts with CUBN/cubilin
Structure
- contains 1 VWFC domain
Compartment
membrane Alternative promoter:
Expression
- long isoforms are highly expressed in small intestine, colon & kidney (renal proximal tubule epithelial cells)
- shorter isoforms are detected at lower levels in testis, thymus, peripheral blood leukocytes
Pathology
- defects in AMN are a cause of recessive hereditary megaloblastic anemia 1