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Nuclear RNA export factor 5

NXF5
This gene is one member of a family of nuclear RNA export factor genes. The encoded protein can bind RNA, and is implicated in mRNA nuclear export. However, this protein has lost several C-terminal protein domains found in other family members that are required for export activity, and may be an evolving pseudogene. Alternatively spliced transcript variants have been described, but most are candidates for nonsense-mediated decay (NMD) and may not express proteins in vivo. [provided by RefSeq, Jul 2009] (from NCBI)
Top mentioned proteins: NXF2, XLMR, p21, Inv, FMR1
Papers on NXF5
Nxf7 deficiency impairs social exploration and spatio-cognitive abilities as well as hippocampal synaptic plasticity in mice.
D'Hooge et al., Leuven, Belgium. In Front Behav Neurosci, 2014
Disruption of human NXF5 has been implicated in intellectual and psychosocial disabilities.
Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.
Griffiths et al., Napoli, Italy. In Hum Mol Genet, 2013
We then used a whole exome sequencing approach to identify two mutated genes, NXF5 and ALG13, which are located within this linkage interval.
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
Mandel et al., Illkirch-Graffenstaden, France. In Am J Hum Genet, 2013
We particularly question the implication in XLID of ten of them (AGTR2, MAGT1, ZNF674, SRPX2, ATP6AP2, ARHGEF6, NXF5, ZCCHC12, ZNF41, and ZNF81), in which truncating variants or previously published mutations are observed at a relatively high frequency within this cohort.
Generation and characterization of an Nxf7 knockout mouse to study NXF5 deficiency in a patient with intellectual disability.
Froyen et al., Leuven, Belgium. In Plos One, 2012
We previously reported on the loss of NXF5 in a male patient with a syndromic form of intellectual disability.
Disease-dependent differently methylated regions (D-DMRs) of DNA are enriched on the X chromosome in uterine leiomyoma.
Shiota et al., Ube, Japan. In J Reprod Dev, 2011
Using paired samples of normal myometrium and leiomyoma from 6 hysterectomy patients, methylation-sensitive quantitative real-time PCR revealed 14 shared X chromosome genes with an abnormal DNA hypomethylation status (FAM9A, CPXCR1, CXORF45, TAF1, NXF5, VBP1, GABRE, DDX53, FHL1, BRCC3, DMD, GJB1, AP1S2 and PCDH11X) and one hypermethylated locus (HDAC8).
De novo duplication of Xq22.1→q24 with a disruption of the NXF gene cluster in a mentally retarded woman with short stature and premature ovarian failure.
Wang et al., Taipei, Taiwan. In Taiwan J Obstet Gynecol, 2011
There was a disruption of the NXF gene cluster of Xcen-NXF5-NXF2-NXF2B-NXF4-NXF3-Xqter.
Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure.
Valetto et al., Pisa, Italy. In Fertil Steril, 2010
Detailed molecular characterization by FISH showed that the NXF5 (nuclear RNA export factor 5) gene was contained in the clone spanning the breakpoint on the X chromosome.
Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients.
Romano et al., Italy. In Eur J Med Genet, 2010
Among them, the NXF5 gene has already been linked to mental retardation whereas NXF2 protein has been recently found to be partner of FMRP in regulating Nxf1 mRNA stability in neuronal cells.
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.
Marynen et al., Leuven, Belgium. In Hum Mutat, 2007
These include deletions that contain the MRX(S) genes CDKL5, OPHN1, and CASK, and duplications harboring CDKL5, NXF5, MECP2, and GDI1.
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.
GeneRIF
Froyen et al., Leuven, Belgium. In Am J Med Genet A, 2003
Mutations of the NXF5 gene is associated with X-linked mental retardation
NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation.
Froyen et al., Leuven, Belgium. In Curr Biol, 2001
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.
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