TMEM185A Polyclonal Antibody

The protein encoded by TMEM185A (transmembrane protein 185A) is predicted to be a transmembrane protein. TMEM185A 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 TMEM185A has been defined on the X chromosome.