Nhs^Xcat

A 487 kb insertion into the gene between exons 1 and 2 disrupts the expression of a transcript containing exon 1. The insertion appears to be a duplication and translocation of a more proximal region of chromosome X. A transcript is expressed from an alternate promoter of the gene and results in a protein product that lacks cytoplasmic localization signals and is transported to the nucleus. Total transcript levels are also reduced. (J:104492)