Transmembrane protein 185A (TMEM185A)

Transmembrane protein 185A (TMEM185A) is a putative multi-pass membrane protein encoded by the TMEM185A gene on the X chromosome. It is primarily recognized for its genomic localization within the CpG island of the FRAXF fragile site at Xq28. This region contains a variable CGG trinucleotide repeat, which in rare cases expands but without a clear associated phenotype. The function of TMEM185A remains undefined; no clear biological activity, mechanism, or therapeutic relevance has been established to date. TMEM185A is associated genetically with Fraxf syndrome and Jacobsen syndrome, but there is no evidence that it is a direct therapeutic target, nor are there known drugs or biomarker roles for this protein[1][7][9].\n\nKey points:\n- **Transmembrane protein 185A** is not currently considered a receptor, enzyme, transporter, or direct therapeutic target.\n- Its function is not well characterized, and the association with disease is based on genomic location rather than demonstrated protein activity[1][7][9].

Other names

CXorf13FAM11AFRAXFee3family with sequence similarity 11 member Afragile site, folic acid type, rare, fra(X)(q28) F[1][9]