CRLF1

Cytokine receptor-like factor 1 is a protein that in humans is encoded by the "CRLF1" 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 marfanoid habitus with progressive kyphoscoliosis and craniofacial characteristics including dolichocephaly, a slender face with poor expression, a nose with hypoplastic nares, malar hypoplasia and prognathism.