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The official name of this gene is “amnion associated transmembrane protein.”
AMN is the gene's official symbol. The AMN gene is also known by other names, listed below.
The protein encoded by this gene is a type I transmembrane protein. It is thought to modulate bone morphogenetic protein (BMP) receptor function by serving as an accessory or coreceptor, and thus facilitates or hinders BMP binding. It is known that the mouse AMN gene is expressed in the extraembryonic visceral endoderm layer during gastrulation, but it is found to be mutated in amnionless mouse. The encoded protein has sequence similarity to short gastrulation (Sog) and procollagen IIA proteins in Drosophila. [provided by RefSeq, Jul 2008]
Necessary for efficient absorption of vitamin B12. May direct the production of trunk mesoderm during development by modulating a bone morphogenetic protein (BMP) signaling pathway in the underlying visceral endoderm.
The disease is caused by mutations affecting the gene represented in this entry.
|||261100 (http://omim.org/entry/261100)||MEGALOBLASTIC ANEMIA 1|
|605799 (http://omim.org/entry/605799)||AMNIONLESS, MOUSE, HOMOLOG OF|
Cytogenetic Location: 14q32.3
Molecular Location on chromosome 14: base pairs 103,388,992 to 103,397,178
The AMN gene is located on the long (q) arm of chromosome 14 at position 32.3.
More precisely, the AMN gene is located from base pair 103,388,992 to base pair 103,397,178 on chromosome 14.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about AMN helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
anemia ; expressed ; gene ; inborn errors of metabolism ; megaloblastic anemia ; mesoderm ; metabolism ; protein ; receptor ; transmembrane ; vitamin B12
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.