Ciliary neurotrophic factor receptor

Ciliary Neurotrophic Factor Receptor (CNTFR) is a protein that in humans is encoded by the CNTFR gene. It is a component of a multi-subunit receptor complex, the ciliary neurotrophic factor (CNTF) receptor, which also includes two other proteins: LIF receptor (LIFR) and gp130.

Function

The CNTFR is part of the receptor system for ciliary neurotrophic factor, a protein that promotes the survival of various neuronal cell types and may play an important role in the injury-induced response of neurons. The CNTFR does not have a transmembrane domain, unlike many other growth factor receptors, and therefore cannot function by itself. Instead, it requires the other two components of the CNTF receptor - LIFR and gp130 - to mediate cellular response to CNTF.

Structure

The CNTFR is a glycosylated protein with a molecular weight of approximately 60 kDa. It consists of an extracellular domain, a single transmembrane domain, and a short cytoplasmic tail. The extracellular domain of the CNTFR is responsible for binding to CNTF, while the transmembrane domain and cytoplasmic tail are required for association with LIFR and gp130.

Clinical Significance

Mutations in the CNTFR gene have been associated with motor neuron disease and Hirschsprung's disease. In addition, the CNTFR has been implicated in the pathogenesis of neurodegenerative diseases such as Alzheimer's disease and Parkinson's disease.

See Also

• Ciliary neurotrophic factor
• LIF receptor
• gp130
• Neurotrophic factor

References

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