CRLF1
(Redirected from Cold-induced sweating syndrome)
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]
- ↑ , 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,
- ↑ 2.0 2.1 Entrez Gene: CRLF1 cytokine receptor-like factor 1 Full text, ,
- ↑ 3.0 3.1 3.2 3.3 , 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,
- ↑ , 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,
Further reading[edit | edit source]
,
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[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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