Aliases for TMEM185A Gene
External Ids for TMEM185A Gene
Previous HGNC Symbols for TMEM185A Gene
Previous GeneCards Identifiers for TMEM185A Gene
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]
GeneCards Summary for TMEM185A Gene
TMEM185A (Transmembrane Protein 185A) is a Protein Coding gene. Diseases associated with TMEM185A include fraxf syndrome.