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Fraction of tumor cells in a few hepatocellular carcinomas displayed moderate cytoplasmic and nuclear positivity. Remaining malignant cells were negative.
GENE INFORMATION
Gene name
TMEM185A (HGNC Symbol)
Synonyms
CXorf13, FAM11A, FRAXF
Description
Transmembrane protein 185A (HGNC Symbol)
Entrez gene 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]
B3KY49 [Direct mapping] Family with sequence similarity 11, member A, isoform CRA_a; Transmembrane protein 185A; cDNA FLJ46855 fis, clone UTERU3010029, highly similar to Protein FAM11A
