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amnionless protein (AMN)
Function:
1) necessary for efficient absorption of vitamin B12
2) may direct production of trunk mesoderm during development by modulating a bone morphogenetic protein (BMP) signaling in the underlying visceral endoderm
3) 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:
1) long isoforms are highly expressed in small intestine, colon & kidney (renal proximal tubule epithelial cells)
2) 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
General
glycoprotein
membrane protein
Properties
SIZE: MW = 48 kD
entity length = 453 aa
COMPARTMENT: cellular membrane
MOTIF: signal sequence {1-19}
N-glycosylation site {N35}
VWFC domain {202-254}
transmembrane domain {358-378}
Database Correlations
OMIM correlations
MORBIDMAP 605799
UniProt Q9BXJ7
References
- UniProt :accession Q9BXJ7
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=AMN
Component-of
cubam complex