PYHIN1
Homo sapiens
Gene Name: Pyrin and HIN domain family, member 1
Aliases: IFIX
Chromosome No: 1
Chromosome Band: 1q23.1
Genetic Category: Rare single gene variant
Aliases: IFIX
Chromosome No: 1
Chromosome Band: 1q23.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 4
Associated CNVs: 4
Evidence score: 2
ASD Reports: 4
Recent Reports: 1
Annotated variants: 4
Associated CNVs: 4
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Three de novo variants in the PYHIN1 gene (one nonsense, two missense) have been identified in simplex ASD cases, with no de novo events in this gene observed in 1,786 unaffected siblings from the Simons Simplex Collection (P=5.53 x 10-4) (De Rubeis et al., 2014; Iossifov et al., 2014; Krumm et al., 2015).
Molecular Function
The protein encoded by this gene belongs to the HIN-200 family of interferon-inducible proteins, which are primarily nuclear and are involved in transcriptional regulation of genes important for cell cycle control, differentiation, and apoptosis. This protein acts as a tumor suppressor by promoting ubiquitination and subsequent degradation of MDM2, which leads to stabilization of p53/TP53.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Recent Recommendation
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
ASD