RFXANK

RFXANK is a gene that encodes a protein involved in the immune system's response to infections. This protein is a part of the regulatory factor X (RFX) complex, which is a group of proteins that work together to regulate the expression of certain genes. The RFXANK protein specifically plays a role in the activation of the major histocompatibility complex (MHC) class II genes, which are crucial for the immune system's ability to recognize and respond to foreign substances.

Function

The RFXANK gene provides instructions for making a protein that is part of a complex known as the regulatory factor X (RFX) complex. This complex binds to a specific area of DNA and helps control the activity (expression) of certain genes. The RFXANK protein is involved in the activation of genes that provide instructions for making a group of proteins known as major histocompatibility complex (MHC) class II. These proteins play a critical role in the immune system's ability to recognize and respond to foreign substances.

Clinical significance

Mutations in the RFXANK gene can lead to a condition known as bare lymphocyte syndrome type II (BLS II). This is a severe immunodeficiency disorder characterized by a lack of MHC class II proteins on the surface of certain cells, leading to a reduced ability of the immune system to fight off infections. Symptoms of BLS II can include recurrent bacterial, viral, and fungal infections, as well as an increased risk of developing autoimmune disorders.

See also

• Bare lymphocyte syndrome
• Major histocompatibility complex
• Regulatory factor X

References

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