CRLF1

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CRLF1
Identifiers
Aliases CRLF1, CISS, CISS1, CLF, CLF-1, NR6, zcytor5, cytokine receptor like factor 1
External IDs MGI: 1340030 HomoloGene: 3489 GeneCards: CRLF1
RNA expression pattern
PBB GE CRLF1 206315 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004750

NM_018827

RefSeq (protein)

NP_004741

NP_061297.1
NP_061297

Location (UCSC) Chr 19: 18.57 – 18.61 Mb Chr 8: 70.49 – 70.5 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Cytokine receptor-like factor 1 is a protein that in humans is encoded by the CRLF1 gene.[3][4]

Function[edit]

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.[4]

Clinical significance[edit]

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)[5][6]
  • 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.[5]

It is unknown whether the two conditions are distinct clinical entities or a single clinical entity with variable expressions.[5] 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.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Elson GC, Graber P, Losberger C, Herren S, Gretener D, Menoud LN, Wells TN, Kosco-Vilbois MH, Gauchat JF (Aug 1998). "Cytokine-like factor-1, a novel soluble protein, shares homology with members of the cytokine type I receptor family". J Immunol. 161 (3): 1371–9. PMID 9686600. 
  4. ^ a b "Entrez Gene: CRLF1 cytokine receptor-like factor 1". 
  5. ^ a b c d 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 (March 2010). "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. 152A (3): 764–9. doi:10.1002/ajmg.a.33315. PMID 20186812. 
  6. ^ Rousseau F, Gauchat JF, McLeod JG, Chevalier S, Guillet C, Guilhot F, Cognet I, Froger J, Hahn AF, Knappskog PM, Gascan H, Boman H (June 2006). "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. 103 (26): 10068–73. doi:10.1073/pnas.0509598103. PMC 1502507Freely accessible. PMID 16782820. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.