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Abnova
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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
Product may be used with Western Blot (Transfected lysate).
The Isotype of this product is composed of an IgG Mixture.
Immunogen sequence: MAAGCCGVKK QKLSSSPPSG SGGGGGASSS SHCSGESQCR AGELGLGGAG TRLNGLGGLT GGGSGSGCTL SPPQGCGGGG GGIALSPPPS CGVGTLLSTP AAATSSSPSS SSAASSSSPG SRKMVVSAEM CCFCFDVLYC HLYGYQQPRT PRFTNEPYAL KDSRFPPMTR DELPRLFCSV SLLTNFEDVC DYLDWEVGVH GIRIEFINEK GSKRTATYLP EVAKEQGWDH IQTIDSLLRK GGYKAPITNE FRKTIKLTRY RSEKMTLSYA EYLAHRQHHH FQNGIGHPLP PYNHYS
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: AMME syndrome candidate gene 1 protein; unnamed protein product
Gene Aliases: AMMERC1; MFHIEN
UniProt ID: (Human) Q9Y4X0
Entrez Gene ID: (Human) 9949
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