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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.
Immunogen sequence: AACVWGFRHD RSLELEILCS V
Highest antigen sequence indentity to the following orthologs: Mouse - 100%, Rat - 100%.
The protein encoded by this gene is predicted to be a transmembrane protein. This gene is best known for localizing to the CpG island of the fragile site FRAXF. The 5' untranslated region of this gene contains a CGG trinucleotide repeat sequence that normally consists of 7-40 tandem CGG repeats but which can expand to greater than 300 repeats. Methylation of the CpG island leads to transcriptional silencing of this gene, but neither the silencing nor an expanded repeat region appear to manifest itself in a clear phenotypic manner. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Aug 2013].
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: Protein FAM11A; Transmembrane protein 185A
基因别名: CXorf13; FAM11A; TMEM185A
Entrez Gene ID: (Human) 84548