MyBioSource.com's Anti-CXorf36 Antibody, Rabbit Polyclonal is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: Western Blot.
Description
CXORF36 (DIA1R) is a homologue of C3ORF58 (DIA1), but it does not have the predicted active site aspartate conserved (corresponding to D166 in PKA). The human DIA1R gene is X-linked, located on the short arm of the X chromosome at position Xp11.3, and has orthologues in at least four vertebrate species. The CXORF36 (DIA1R) gene has been linked to the fragile X syndrome (FXS), with non-synonymous mutations found in this gene in two studies: S24P, K128R. The molecular mechanisms underlying FXS are overlapping with those responsible for autism, since 30% of FXS patients develop autism]. In several publications, the Xp11.3 region that includes CXORF36 has been linked to neurological disorders, including X-linked mental retardation (XLMR). Further, a gene in Xp11.3-4 region may contribute to the higher autism susceptibility in men. Deletion of CXORF36 was also observed in the Kabuki syndrome, a congenital mental retardation syndrome