CRLF1
(Redirected from CNTF receptor-related disorders)
An overview of the CRLF1 gene and its functions
CRLF1[edit | edit source]
CRLF1 (Cytokine Receptor-Like Factor 1) is a protein-coding gene in humans that plays a crucial role in the immune system and nervous system development. It is part of the cytokine receptor family and is involved in the signaling pathways that regulate various biological processes.
Structure[edit | edit source]
The CRLF1 gene is located on chromosome 19 and encodes a protein that is a member of the cytokine receptor family. The protein structure includes several domains that are characteristic of cytokine receptors, which allow it to interact with other proteins and ligands in the signaling pathways.
Function[edit | edit source]
CRLF1 is primarily involved in the formation of a receptor complex with Cardiotrophin-like cytokine factor 1 (CLCF1). This complex is important for the signaling pathways that regulate neuronal development, immune response, and inflammation. The CRLF1/CLCF1 complex acts through the gp130 receptor, which is a common signal transducer for many cytokines.
Clinical Significance[edit | edit source]
Mutations in the CRLF1 gene have been associated with Cold-Induced Sweating Syndrome (CISS), a rare genetic disorder characterized by abnormal sweating, skeletal abnormalities, and neurological issues. The syndrome is caused by the disruption of normal CRLF1 function, leading to impaired signaling in the pathways it regulates.
Research and Implications[edit | edit source]
Research on CRLF1 continues to explore its role in various physiological and pathological processes. Understanding the mechanisms by which CRLF1 and its associated complexes function could lead to new therapeutic targets for diseases related to immune and nervous system dysfunctions.
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