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Invitrogen
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Highest antigen sequence indentity to the following orthologs: Mouse (100%), Rat (100%).
This recombinant protein control fragment may be used for blocking experiments with the corresponding antibody, PA5-81880. In IHC/ICC and WB experiments, we recommend a 100x molar excess of the protein fragment control based on the concentration and the molecular weight. Pre-incubate the antibody-protein control fragment mixture for 30 min at room temperature.
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 deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Alport syndrome mental retardation midface hypoplasia and elliptocytosis chromosomal region protein 1; AMME syndrome candidate gene 1 protein; Nuclear protein AMMECR1
Gene Aliases: AMMECR1; AMMERC1
UniProt ID: (Human) Q9Y4X0
Entrez Gene ID: (Human) 9949
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