|Other Names||AMME syndrome candidate gene 1 protein, AMMECR1|
|Format||Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
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Provided below are standard protocols that you may find useful for product applications.
The exact function of this gene is not known, however,submicroscopic deletion of the X chromosome including this gene,COL4A5, and FACL4 genes, result in a contiguous gene deletionsyndrome, the AMME complex (Alport syndrome, mental retardation,midface hypoplasia, and elliptocytosis). Alternatively splicedtranscript variants encoding different isoforms have been found forthis gene.
Lamesch, P., et al. Genomics 89(3):307-315(2007)Ross, M.T., et al. Nature 434(7031):325-337(2005)Tajika, Y., et al. Proteins 58(2):501-503(2005)Vitelli, F., et al. Genomics 55(3):335-340(1999)Piccini, M., et al. Genomics 47(3):350-358(1998)
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