CRLF1

Cytokine receptor-like factor 1 is a is_associated_with::protein that in humans is encoded by the CRLF1 is_associated_with::gene.

Function
This gene encodes a member of the cytokine type I receptor family. The protein forms a secreted complex with cardiotrophin-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic factor receptors. The complex can promote survival of neuronal cells.

Clinical significance
Mutations in this gene are associated with two conditions, both rare: It is unknown whether the two conditions are distinct clinical entities or a single clinical entity with variable expressions. Other characteristic features in CRLF1 mutation include is_associated_with::marfanoid habitus with progressive kyphoscoliosis and craniofacial characteristics including is_associated_with::dolichocephaly, a slender face with poor expression, a nose with hypoplastic nares, is_associated_with::malar hypoplasia and is_associated_with::prognathism.
 * Cold-induced sweating syndrome, characterized by profuse is_associated_with::hyperhidrosis in cold environmental temperature and characteristic craniofacial and skeletal features)
 * Crisponi syndrome (CS), characterized by neonatal-onset paroxysmal muscular contractions, abnormal function of the is_associated_with::autonomic nervous system and craniofacial and skeletal manifestations such as thick and arched eyebrows, a short nose with anteverted nostrils, full cheeks, an inverted upper lip and a small mouth.