NXF5
Homo sapiens
Gene Name: nuclear RNA export factor 5
Aliases:
Chromosome No: X
Chromosome Band: Xq22.1
Genetic Category: Rare Single Gene variant-Multigenic CNV-Functional
Aliases:
Chromosome No: X
Chromosome Band: Xq22.1
Genetic Category: Rare Single Gene variant-Multigenic CNV-Functional
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 12
Evidence score: 0
ASD Reports: 4
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 12
Evidence score: 0
| Associated Disorders: |
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Relevance to Autism
A missense variant in NXF5 that resulted in skipping of exon 6 of the gene was detected in a female SCZ proband and 3 out of 5 other available affected individuals in a large Pakistani pedigree (Piton et al., 2012).
Molecular Function
Could be involved in the export of mRNA from the nucleus to the cytoplasm. Could also have a role in polarized cytoplasmic transport and localization of mRNA in neurons. A pericentric inversion inv(X)(p21.1;q22) that interrupts NXF5 has been observed in one patient with a syndromic form of mental retardation and short stature (Jun et al., 2001).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.
ASD, SCZ
Support
Generation and characterization of an Nxf7 knockout mouse to study NXF5 deficiency in a patient with intellectual disability.
Support
Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients.
ID
ASD, epilepsy/seizures
Support
NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation.
ID