CRLF1
Cytokine receptor-like factor 1 is a protein that in humans is encoded by the CRLF1 gene.[1][2]
Function[edit | edit source]
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.[2]
Clinical significance[edit | edit source]
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)[3][4]
- 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.[3]
It is unknown whether the two conditions are distinct clinical entities or a single clinical entity with variable expressions.[3] 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.[3]
References[edit | edit source]
Further reading[edit | edit source]
External links[edit | edit source]
- GeneReviews/NCBI/NIH/UW entry on Cold-Induced Sweating Syndrome including Crisponi Syndrome
- OMIM enries on Cold-Induced Sweating Syndrome including Crisponi Syndrome
- Human CRLF1 genome location and CRLF1 gene details page in the UCSC Genome Browser.
This concise article on CRLF1 incorporates public domain text from the US National Library of Medicine.
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Contributors: Prab R. Tumpati, MD