人 TMEM185A (NM_032508) cDNA克隆

Accession: NM_032508
基因名称: TMEM185A
基因别名: ee3; FRAXF; FAM11A; CXorf13
基因描述: Homo sapiens transmembrane protein 185A (TMEM185A), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1053 (查看编码区序列)
翻译后氨基酸长度: 350 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
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G105126 人 TMEM185A (NM_032508) cDNA克隆 pDONR223 2ug质粒 点击询价

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]