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TMEM185A抗体
半岛bd体育手机客户端 介绍
靶标:
TMEM185A 半岛bd体育手机客户端 别名: CXorf13; FAM11A; FRAXF; ee3; TMEM185A; transmembrane protein 185A; transmembrane protein 185A; transmembrane protein 185A; family with sequence similarity 11, member A; fragile site, folic acid type, rare, fra(X)(q28) F; 背景信息:
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],
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