MyBioSource.com's Anti-OPHN1 Antibody, Rabbit Polyclonal is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: Immunohistochemistry, and Immunohistochemistry - fixed. The Anti-OPHN1 Antibody, Rabbit Polyclonal was generated using oligophrenin 1, and OPHN1 as the antigen and it reacts with Human.
Description
Oligophrenin-1 (OPHN1) is one of at least seven genes located on chromosome X that take part in Rho GTPase-dependent signaling pathways involved in X-linked intellectual disability (XLID). Mutations in OPHN1 were primarily described as an exclusive cause of non-syndromic XLID, but the re-evaluation of the affected individuals using brain imaging displayed fronto-temporal atrophy and cerebellar hypoplasia as neuroanatomical marks.Oligophrenin-1 (OPHN1) encodes for a Rho-GTPase-activating protein, important for dendritic morphogenesis and synaptic function. The OPHN1 gene encodes a Rho-GTPase activating protein (RhoGAP), and mutations in OPHN1 are responsible for non-specific X-linked mental retardation (NSMR)