|Western Blot (WB)||1:500-1:1000|
|Tested Species reactivity||Human, Mouse|
|Host / Isotype||Rabbit / IgG|
|Immunogen||A synthetic peptide derived from the internal region of human TMEM185A|
|Purification||Antigen affinity chromatography|
|Storage buffer||Dulbecco's PBS, pH 7.4, with 50% glycerol, 150mM NaCl|
|Contains||0.02% sodium azide|
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].
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: CXorf13; ee3; Erythropoietin-induced EST 3; FAM11A; family with sequence similarity 11, member A; fragile site, folic acid type, rare, fra(X)(q28) F; Protein FAM11A; Transmembrane protein 185A
Gene Aliases: CXorf13; Ee3; FAM11A; FRAXF; TMEM185A
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