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The protein encoded by TMEM185A is predicted to be a transmembrane protein, but this has not been experimentally determined. Zusätzlich bieten wir Ihnen und viele weitere Produktgruppen zu diesem Protein an.
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Transcriptionally silenced in a normal individual with a FRAXF CGG full mutation (fragile site).
The mouse ee3 is an orphan G-protein-coupled receptor with potential connections to erythropoietin and 5HT2a receptor signalling. ee3_2, a similar gene, is also described, along with human orthologs.
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.
family with sequence similarity 11, member A
, fragile site, folic acid type, rare, fra(X)(q28) F
, transmembrane protein 185A
, transmembrane protein 185a