Gene: CRLF1

Alternate names for this Gene: CISS|CISS1|CLF|CLF-1|NR6|zcytor5

Gene Summary: 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. Mutations in this gene result in Crisponi syndrome and cold-induced sweating syndrome.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.11

Description of this Gene: cytokine receptor like factor 1

Type of Gene: protein-coding

rs2238647 in CRLF1 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs104894668 in CRLF1 gene and COLD-INDUCED SWEATING SYNDROME 1 PMID 17436251 2007 Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.

PMID 21326283 2011 Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.

PMID 12509788 2003 Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.

PMID 16952376 2006 Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity.

PMID 24488861 2014 Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.

PMID 17436252 2007 Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.

PMID 23026229 2013 Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene.

rs144474740 in CRLF1 gene and Oral Ulcer PMID 30837455 2019 Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci.