Amnionless Protein

From Anvita Health Wiki

Contents 1 Function 2 Structure 3 Compartment 4 Expression 5 Pathology 6 More General Terms 7 Internet Database 8 References

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:
• named isoforms=1
• at least 5 isoforms, 1, 2, 3, 4 & 5

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

More General Terms

• membrane protein
• glycoprotein

Internet Database

OMIM: 261100
OMIM: 605799
Prosite: [1]
Prosite: [2]
UniProt: [3]

References

1. UniProt [4]
2. GeneReviews [5]

amnionless protein (AMN)