Gene: PYHIN1

Alternate names for this Gene: IFIX

Gene Summary: The protein encoded by this gene belongs to the HIN-200 family of interferon-inducible proteins that share a 200-amino acid signature motif at their C-termini. HIN200 proteins are primarily nuclear and are involved in transcriptional regulation of genes important for cell cycle control, differentiation, and apoptosis. Downregulation of this gene is associated with breast cancer. This protein acts as a tumor suppressor by promoting ubiquitination and subsequent degradation of MDM2, which leads to stabilization of p53/TP53. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1q23.1

Description of this Gene: pyrin and HIN domain family member 1

Type of Gene: protein-coding

rs856134 in PYHIN1 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs1101999 in PYHIN1 gene and Asthma PMID 21804549 2011 Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations.

rs856134 in PYHIN1 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.