CRLF1

Gene

Symbol	–
HGNC ID	–
Alternative symbols	–
Entrez Gene	–
OMIM	–
RefSeq	–
UniProt	–
Chromosome	–
Locus supplementary data	–

Cytokine receptor-like factor 1 is a protein that in humans is encoded by the CRLF1 gene.<ref name="pmid9686600">,

 Cytokine-like factor-1, a novel soluble protein, shares homology with members of the cytokine type I receptor family, 
 J Immunol, 
 
 Vol. 161(Issue: 3),
 pp. 1371–9,
 
 PMID: 9686600,</ref><ref name="entrez">

Entrez Gene: CRLF1 cytokine receptor-like factor 1(link). {{{website}}}.

</ref>

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.<ref name="entrez"/>

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)<ref name=Yamazaki2010>,

 Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation, 
 Am. J. Med. Genet. A, 
 
 Vol. 152A(Issue: 3),
 pp. 764–9,
 DOI: 10.1002/ajmg.a.33315,
 PMID: 20186812,</ref><ref name="pmid16782820">, 
 Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient, 
 Proc. Natl. Acad. Sci. U.S.A., 
 
 Vol. 103(Issue: 26),
 pp. 10068–73,
 DOI: 10.1073/pnas.0509598103,
 PMID: 16782820,
 PMC: 1502507,</ref>

• 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/>

Further reading

• ,

 CLF associates with CLC to form a functional heteromeric ligand for the CNTF receptor complex., 
 Nat. Neurosci., 
 2000,
 Vol. 3(Issue: 9),
 pp. 867–72,
 DOI: 10.1038/78765,
 PMID: 10966616,

• ,

 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., 
 J. Biol. Chem., 
 2001,
 Vol. 276(Issue: 25),
 pp. 22476–84,
 DOI: 10.1074/jbc.M101681200,
 PMID: 11294841,

• ,

 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences., 
 Proc. Natl. Acad. Sci. U.S.A., 
 2003,
 Vol. 99(Issue: 26),
 pp. 16899–903,
 DOI: 10.1073/pnas.242603899,
 PMID: 12477932,
 PMC: 139241,

• ,

 Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene., 
 Am. J. Hum. Genet., 
 2003,
 Vol. 72(Issue: 2),
 pp. 375–83,
 DOI: 10.1086/346120,
 PMID: 12509788,
 PMC: 379230,

• ,

 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment., 
 Genome Res., 
 2003,
 Vol. 13(Issue: 10),
 pp. 2265–70,
 DOI: 10.1101/gr.1293003,
 PMID: 12975309,
 PMC: 403697,

• ,

 Characterizing the new transcription regulator protein p60TRP., 
 J. Cell. Biochem., 
 2005,
 Vol. 91(Issue: 5),
 pp. 1030–42,
 DOI: 10.1002/jcb.20010,
 PMID: 15034937,

• ,

 Signal peptide prediction based on analysis of experimentally verified cleavage sites., 
 Protein Sci., 
 2005,
 Vol. 13(Issue: 10),
 pp. 2819–24,
 DOI: 10.1110/ps.04682504,
 PMID: 15340161,
 PMC: 2286551,

• ,

 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)., 
 Genome Res., 
 2004,
 Vol. 14(Issue: 10B),
 pp. 2121–7,
 DOI: 10.1101/gr.2596504,
 PMID: 15489334,
 PMC: 528928,

• ,

 Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes., 
 Am. J. Hum. Genet., 
 2007,
 Vol. 80(Issue: 5),
 pp. 966–70,
 DOI: 10.1086/513608,
 PMID: 17436251,
 PMC: 1852726,

• ,

 Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1., 
 Am. J. Hum. Genet., 
 2007,
 Vol. 80(Issue: 5),
 pp. 971–81,
 DOI: 10.1086/516843,
 PMID: 17436252,
 PMC: 1852730,

External links

• 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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