TMEM185A, Official Symbol TMEM185Aprovided by HGNC Official Full Name transmembrane protein 185Aprovided by HGNC Primary source HGNC:HGNC:17125 See related Ensembl:ENSG00000269556 MIM:300031; AllianceGenome:HGNC:17125 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ee3; FRAXF; FAM11A; CXorf13 Summary 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] Expression Ubiquitous expression in ovary (RPKM 13.5), placenta (RPKM 12.6) and 25 other tissues See more Orthologs mouse all