Psychiatry related information on NXF5

• NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation [1].

High impact information on NXF5

• In contrast to TAP/NXF1, overexpression studies localized NXF5 in the form of granules in the cell body and neurites of mature hippocampal neurons, suggesting a role in mRNA transport [1].
• Functional analysis of NXF5 demonstrates binding to RNA as well as to the RNA nuclear export-associated protein p15/NXT [1].
• Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene [2].
• 1. Within this cluster, the NXF5 gene was interrupted with subsequent loss of gene expression [2].

Biological context of NXF5

• The predicted NXF5 protein shows high similarity with the central part of the presumed mRNA nuclear export factor TAP/NXF1 [1].
• Molecular analysis of both breakpoint regions did not reveal an interrupted gene on Xp, but identified a novel nuclear RNA export factor (NXF) gene cluster, Xcen-NXF5-NXF2-NXF4-NXF3-Xqter, in which NXF5 is split by the breakpoint, leading to its functional nullisomy [1].

References