TMEM185A 抗体

The protein encoded by this gene is predicted to be a transmembrane protein, but this has not been experimentally determined. This gene is better known for localizing to the CpG island of the fragile site FRAXF. The 5-prime 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. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010].