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{{Infobox_gene}}
{{Short description|An overview of the CRLF1 gene and its functions}}
'''Cytokine receptor-like factor 1''' is a [[protein]] that in humans is encoded by the ''CRLF1'' [[gene]].<ref name="pmid9686600">{{cite journal | vauthors = Elson GC, Graber P, Losberger C, Herren S, Gretener D, Menoud LN, Wells TN, Kosco-Vilbois MH, Gauchat JF | title = Cytokine-like factor-1, a novel soluble protein, shares homology with members of the cytokine type I receptor family | journal = J Immunol | volume = 161 | issue = 3 | pages = 1371–9 |date=Aug 1998 | pmid = 9686600 | pmc = | doi = }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: CRLF1 cytokine receptor-like factor 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9244| accessdate = }}</ref>
== Function ==
==CRLF1==
'''CRLF1''' (Cytokine Receptor-Like Factor 1) is a protein-coding gene in humans that plays a crucial role in the immune system and nervous system development. It is part of the [[cytokine receptor]] family and is involved in the signaling pathways that regulate various biological processes.
This gene encodes a member of the [[type I cytokine receptor|cytokine type I receptor]] family. The protein forms a secreted complex with [[cardiotrophin 1|cardiotrophin]]-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic factor receptors. The complex can promote survival of neuronal cells.<ref name="entrez"/>
==Structure==
The CRLF1 gene is located on chromosome 19 and encodes a protein that is a member of the [[cytokine receptor]] family. The protein structure includes several domains that are characteristic of cytokine receptors, which allow it to interact with other proteins and ligands in the signaling pathways.
==Clinical significance==
==Function==
CRLF1 is primarily involved in the formation of a receptor complex with [[Cardiotrophin-like cytokine factor 1]] (CLCF1). This complex is important for the signaling pathways that regulate [[neuronal development]], [[immune response]], and [[inflammation]]. The CRLF1/CLCF1 complex acts through the [[gp130]] receptor, which is a common signal transducer for many cytokines.
Mutations in this gene are associated with two conditions, both [[rare disease|rare]]:
==Clinical Significance==
*'''Cold-induced sweating syndrome''', characterized by profuse [[hyperhidrosis]] in cold environmental temperature and characteristic craniofacial and skeletal features)<ref name=Yamazaki2010>{{cite journal | vauthors = Yamazaki M, Kosho T, Kawachi S, Mikoshiba M, Takahashi J, Sano R, Oka K, Yoshida K, Watanabe T, Kato H, Komatsu M, Kawamura R, Wakui K, Knappskog PM, Boman H, Fukushima Y | title = Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation | journal = Am. J. Med. Genet. A | volume = 152A | issue = 3 | pages = 764–9 |date=March 2010 | pmid = 20186812 | doi = 10.1002/ajmg.a.33315 | url = | issn = }}</ref><ref name="pmid16782820">{{cite journal | vauthors = Rousseau F, Gauchat JF, McLeod JG, Chevalier S, Guillet C, Guilhot F, Cognet I, Froger J, Hahn AF, Knappskog PM, Gascan H, Boman H | title = Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 103 | issue = 26 | pages = 10068–73 |date=June 2006 | pmid = 16782820 | pmc = 1502507 | doi = 10.1073/pnas.0509598103 | url = | issn = }}</ref>
Mutations in the CRLF1 gene have been associated with [[Cold-Induced Sweating Syndrome]] (CISS), a rare genetic disorder characterized by abnormal sweating, [[skeletal abnormalities]], and [[neurological issues]]. The syndrome is caused by the disruption of normal CRLF1 function, leading to impaired signaling in the pathways it regulates.
*'''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.<ref name=Yamazaki2010/>
It is unknown whether the two conditions are distinct clinical entities or a single clinical entity with variable expressions.<ref name=Yamazaki2010/>
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]].<ref name=Yamazaki2010/>
== References ==
==Research and Implications==
{{reflist}}
Research on CRLF1 continues to explore its role in various physiological and pathological processes. Understanding the mechanisms by which CRLF1 and its associated complexes function could lead to new therapeutic targets for diseases related to immune and nervous system dysfunctions.
== Further reading ==
==Related pages==
{{refbegin | 2}}
* [[Cytokine receptor]]
*{{cite journal | vauthors=Elson GC, Lelièvre E, Guillet C |title=CLF associates with CLC to form a functional heteromeric ligand for the CNTF receptor complex. |journal=Nat. Neurosci. |volume=3 |issue= 9 |pages= 867–72 |year= 2000 |pmid= 10966616 |doi= 10.1038/78765 |display-authors=etal}}
* [[Cardiotrophin-like cytokine factor 1]]
*{{cite journal | vauthors=Lelièvre E, Plun-Favreau H, Chevalier S |title=Signaling pathways recruited by the cardiotrophin-like cytokine/cytokine-like factor-1 composite cytokine: specific requirement of the membrane-bound form of ciliary neurotrophic factor receptor alpha component. |journal=J. Biol. Chem. |volume=276 |issue= 25 |pages= 22476–84 |year= 2001 |pmid= 11294841 |doi= 10.1074/jbc.M101681200 |display-authors=etal|doi-access=free }}
* [[Cold-Induced Sweating Syndrome]]
*{{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
* [[gp130]]
*{{cite journal | vauthors=Knappskog PM, Majewski J, Livneh A |title=Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. |journal=Am. J. Hum. Genet. |volume=72 |issue= 2 |pages= 375–83 |year= 2003 |pmid= 12509788 |doi=10.1086/346120 | pmc=379230 |display-authors=etal}}
*{{cite journal | vauthors=Clark HF, Gurney AL, Abaya E |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265–70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003 | pmc=403697 |display-authors=etal}}
*{{cite journal | vauthors=Heese K, Yamada T, Akatsu H |title=Characterizing the new transcription regulator protein p60TRP. |journal=J. Cell. Biochem. |volume=91 |issue= 5 |pages= 1030–42 |year= 2005 |pmid= 15034937 |doi= 10.1002/jcb.20010 |display-authors=etal}}
*{{cite journal | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
*{{cite journal | vauthors=Dagoneau N, Bellais S, Blanchet P |title=Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. |journal=Am. J. Hum. Genet. |volume=80 |issue= 5 |pages= 966–70 |year= 2007 |pmid= 17436251 |doi= 10.1086/513608 | pmc=1852726 |display-authors=etal}}
*{{cite journal | vauthors=Crisponi L, Crisponi G, Meloni A |title=Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. |journal=Am. J. Hum. Genet. |volume=80 |issue= 5 |pages= 971–81 |year= 2007 |pmid= 17436252 |doi= 10.1086/516843 | pmc=1852730 |display-authors=etal}}
{{refend}}
==External links==
* [https://www.ncbi.nlm.nih.gov/books/NBK52917/ GeneReviews/NCBI/NIH/UW entry on Cold-Induced Sweating Syndrome including Crisponi Syndrome]
* [https://www.ncbi.nlm.nih.gov/omim/601559,193700,601680,272430,601378,604237,607672,610313,272430,601378,604237,607672,610313 OMIM enries on Cold-Induced Sweating Syndrome including Crisponi Syndrome]
CRLF1 (Cytokine Receptor-Like Factor 1) is a protein-coding gene in humans that plays a crucial role in the immune system and nervous system development. It is part of the cytokine receptor family and is involved in the signaling pathways that regulate various biological processes.
The CRLF1 gene is located on chromosome 19 and encodes a protein that is a member of the cytokine receptor family. The protein structure includes several domains that are characteristic of cytokine receptors, which allow it to interact with other proteins and ligands in the signaling pathways.
CRLF1 is primarily involved in the formation of a receptor complex with Cardiotrophin-like cytokine factor 1 (CLCF1). This complex is important for the signaling pathways that regulate neuronal development, immune response, and inflammation. The CRLF1/CLCF1 complex acts through the gp130 receptor, which is a common signal transducer for many cytokines.
Mutations in the CRLF1 gene have been associated with Cold-Induced Sweating Syndrome (CISS), a rare genetic disorder characterized by abnormal sweating, skeletal abnormalities, and neurological issues. The syndrome is caused by the disruption of normal CRLF1 function, leading to impaired signaling in the pathways it regulates.
Research on CRLF1 continues to explore its role in various physiological and pathological processes. Understanding the mechanisms by which CRLF1 and its associated complexes function could lead to new therapeutic targets for diseases related to immune and nervous system dysfunctions.
