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Proteintech
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Immunogen sequence: MAAGCCGVK KQKLSSSPPS GSGGGGGASS SSHCSGESQC RAGELGLGGA GTRLNGLGGL TGGGSGSGCT LSPPQGCGGG GGGIALSPPP SCGVGTLLST PAAATSSSPS SSSAASSSSP GSRKMVVSAE MCCFCFDVLY CHLYGYQQPR TPRFTNEPYA LKDSRFPPMT RDELPRLFCS VSLLTNFEDV CDYLDWEVGV HGIRIEFINE KGSKRTATYL PEVAKEQGWD HIQTIDSLLR KGGYKAPITN EFRKTIKLTR YRSEKMTLSY AEYLAHRQHH HFQNGIGHPL PPYNHYS (1-296 aa encoded by BC060813)
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; Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 homolog; AMME syndrome candidate gene 1 protein; AMME syndrome candidate gene 1 protein homolog; Nuclear protein AMMECR1
基因别名: 6230420G18Rik; AMMECR1; AMMERC1
UniProt ID: (Human) Q9Y4X0, (Mouse) Q9JHT5
Entrez Gene ID: (Human) 9949, (Mouse) 56068