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The official name of this gene is “cardiotrophin-like cytokine factor 1.”
CLCF1 is the gene's official symbol. The CLCF1 gene is also known by other names, listed below.
The CLCF1 gene provides instructions for making a protein called cardiotrophin-like cytokine factor 1 (CLCF1). This protein partners with a similar protein called cytokine receptor-like factor 1 (CRLF1), which is produced from the CRLF1 gene. Together, these two proteins form a unit known as the CRLF1/CLCF1 protein complex. This complex attaches (binds) to a receptor protein known as the ciliary neurotrophic factor receptor (CNTFR) on the surface of many types of cells. When the CRLF1/CLCF1 protein complex is bound to CNTFR, it triggers signaling inside the cell that affects cell development and function.
The CNTFR signaling pathway is primarily involved in the development and maintenance of the nervous system. It promotes the survival of nerve cells (neurons), particularly nerve cells that control muscle movement (motor neurons). The CNTFR pathway also plays a role in a part of the nervous system called the sympathetic nervous system, specifically in the regulation of sweating in response to temperature changes and other factors. This signaling pathway appears to be critical for the normal development and maturation of nerve cells that control the activity of sweat glands.
Studies suggest that the CNTFR signaling pathway also has functions outside the nervous system. It may be involved in the body's inflammatory response, which helps fight infection and facilitate tissue repair following an injury. This pathway may also be important for the development and maintenance of bone tissue. However, little is known about the role of CNTFR signaling in these processes.
At least four mutations in the CLCF1 gene have been reported to cause cold-induced sweating syndrome, a rare condition characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body. When this condition is caused by CLCF1 gene mutations, it is known as CISS2.
Mutations in the CLCF1 gene lead to the production of a nonfunctional version of the CLCF1 protein. The defective protein is unable to interact with the CLRF1 protein and bind to CNTFR, which disables the CNTFR signaling pathway.
Researchers believe that a failure of CNTFR signaling underlies the major features of cold-induced sweating syndrome. A loss of this signaling pathway during sympathetic nervous system development may help explain the abnormal sweating that is characteristic of this condition, including unusual sweating patterns and related problems with body temperature regulation. The CNTFR pathway's involvement in motor neuron development and bone development provides clues to some of the other signs and symptoms of the disorder, including distinctive facial features, facial muscle weakness, and skeletal abnormalities. However, little is known about how a lack of CNTFR signaling leads to these varied features.
Cytogenetic Location: 11q13.3
Molecular Location on chromosome 11: base pairs 67,364,167 to 67,374,176
The CLCF1 gene is located on the long (q) arm of chromosome 11 at position 13.3.
More precisely, the CLCF1 gene is located from base pair 67,364,167 to base pair 67,374,176 on chromosome 11.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about CLCF1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
cell ; cytokine ; gene ; infection ; injury ; leukemia ; motor ; motor neuron ; nervous system ; neuron ; protein ; receptor ; syndrome ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.