2024年12月25日 · IFIH1 (Interferon Induced With Helicase C Domain 1) is a Protein Coding gene. Diseases associated with IFIH1 include Singleton-Merten Syndrome 1 and Aicardi-Goutieres Syndrome 7. Among its related pathways are DDX58/IFIH1-mediated induction of interferon-alpha/beta and SARS-CoV-2 Infection.

The IFIH1 gene provides instructions for making the MDA5 protein, which plays an important role in innate immunity, the body's early, nonspecific response to foreign invaders (pathogens) such as viruses and bacteria. Learn about this gene and related health conditions.

2014年3月30日 · We found that heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (also called MDA5) cause a spectrum of neuroimmunological features consistently associated with an...

Using exome and transcriptome sequencing, we identified and characterized three rare loss-of-function variants in IFIH1, which encodes an RIG-I-like receptor involved in the sensing of viral RNA.

2025年2月9日 · Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling, including Aicardi-Goutieres syndrome. The IFIH1 gene appears to play a major role in the development of some autoimmune diseases, and it is, therefore, a candidate gene for T1DM.

We identified a common missense mutation, c.2465G>A (p.Arg822Gln), in interferon induced with helicase C domain 1 (IFIH1, encoding melanoma differentiation-associated protein 5 [MDA5]) in four SMS subjects from two families and a simplex case. IFIH1 has been linked to a number of autoimmune disorders, including Aicardi-Goutières syndrome ...

The IFIH1 gene encodes a cytoplasmic receptor that senses dsRNA viral products to activate type I interferon signaling through the MAVS (609676) adaptor molecule. This can inhibit virus replication and modulate cellular immune responses.

We found that heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (also called MDA5) cause a spectrum of neuroimmunological features consistently associated with an enhanced interferon state.

2025年1月4日 · IFIH1 encodes MDA5 which is an intracellular sensor of viral RNA that triggers the innate immune response. Sensing RNA length and secondary structure, MDA5 binds dsRNA oligonucleotides with a modified DExD/H-box helicase core and a C-terminal domain, thus leading to a proinflammatory response that includes interferons.

Variants (also called mutations) in the IFIH1 gene have been found to cause Aicardi-Goutières syndrome. This disorder is characterized by abnormalities of the immune system, skin, and brain. Some affected individuals have calcium deposits in parts of the brain.