anticorps CXorf13, anticorps FAM11A, anticorps FRAXF, anticorps ee3, anticorps FAM11B, anticorps transmembrane protein 185A, anticorps transmembrane protein 185B, anticorps transmembrane protein 185a, anticorps TMEM185A, anticorps TMEM185B, anticorps Tsp_10851, anticorps t185a
Sujet
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.