Cytokine receptor-like factor 1 is a protein that in humans is encoded by the CRLF1 gene.[5][6]
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.[6]
Clinical significance
Mutations in this gene are associated with two conditions, both rare:
- Cold-induced sweating syndrome, characterized by profuse hyperhidrosis in cold environmental temperature and characteristic craniofacial and skeletal features)[7][8]
- Crisponi syndrome (CS), characterized by neonatal-onset paroxysmal muscular contractions, abnormal function of the 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.[7]
It is unknown whether the two conditions are distinct clinical entities or a single clinical entity with variable expressions.[7]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.[7]
References
Further reading
External links
- Hahn, Angelika F. Knappskog, Per Morten (March 3, 2011 [Updated August 12, 2021]). "Cold-Induced Sweating Syndrome Including Crisponi Syndrome". GeneReviews.
- "Search: '601559 193700 601680 272430 601378 604237 607672 610313 272430 601378 604237 607672 610313 (Search in: MIM number)'". Online Mendelian Inheritance in Man entries about cold-induced sweating syndrome including Crisponi syndrome.
- Human CRLF1 genome location and CRLF1 gene details page in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.