CRLF1

CRLF1
Identifiers
AliasesCRLF1, CISS, CISS1, CLF, CLF-1, NR6, zcytor5, cytokine receptor like factor 1
External IDsMGI: 1340030 HomoloGene: 3489 GeneCards: CRLF1
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

9244

12931

Ensembl

ENSG00000006016

ENSMUSG00000007888

UniProt

O75462

Q9JM58

RefSeq (mRNA)

NM_004750

NM_018827

RefSeq (protein)

NP_004741

NP_061297

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

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

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.[4]

Clinical significance

Mutations in this gene are associated with two conditions, both rare:

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

  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. 1 2 "Entrez Gene: CRLF1 cytokine receptor-like factor 1".
  5. 1 2 3 4 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. PMID 20186812. doi:10.1002/ajmg.a.33315.
  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. PMC 1502507Freely accessible. PMID 16782820. doi:10.1073/pnas.0509598103.

Further reading

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


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