CRLF1: Difference between revisions
CSV import |
No edit summary |
||
| Line 43: | Line 43: | ||
{{dictionary-stub1}} | {{dictionary-stub1}} | ||
{{No image}} | {{No image}} | ||
Revision as of 16:50, 22 March 2025
| 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/>
References
<references group="" responsive="1"></references>
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.
This article is a medical stub. You can help WikiMD by expanding it!
