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Invitrogen
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Immunogen sequence: ASSSSHCSGE SQCRAGELGL GGAGTRLNGL GGLTGGGSGS GCTLSP
Highest antigen sequence identity to the following orthologs: Mouse - 86%, Rat - 88%.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Alport syndrome mental retardation midface hypoplasia and elliptocytosis chromosomal region protein 1; AMME syndrome candidate gene 1 protein; Nuclear protein AMMECR1
基因别名: AMMECR1; AMMERC1
UniProt ID: (Human) Q9Y4X0
Entrez Gene ID: (Human) 9949