CLCF1 Chromosome 11
Cardiotrophin like cytokine factor 1
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What This Gene Does
This gene is a member of the glycoprotein (gp)130 cytokine family and encodes cardiotrophin-like cytokine factor 1 (CLCF1). CLCF1 forms a heterodimer complex with cytokine receptor-like factor 1 (CRLF1). This dimer competes with ciliary neurotrophic factor (CNTF) for binding to the ciliary neurotrophic factor receptor (CNTFR) complex, and activates the Jak-STAT signaling cascade. CLCF1 can be actively secreted from cells by forming a complex with soluble type I CRLF1 or soluble CNTFR. CLCF1 is a potent neurotrophic factor, B-cell stimulatory agent and neuroendocrine modulator of pituitary corticotroph function. Defects in CLCF1 cause cold-induced sweating syndrome 2 (CISS2). This syndrome is characterized by a profuse sweating after exposure to cold as well as congenital physical abnormalities of the head and spine. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Interleukin 6 type cytokine family
Locus Type
gene with protein product
Location
11q13.2
Ensembl
ENSG00000175505
Associated Conditions (1)
Cold-induced sweating syndrome 2
Key Variants
RS34057094
Conflicting classifications of pathogenicity
Health Risk
RS104894198
Pathogenic
Cold-induced sweating syndrome 2, Cold-induced sweating syndrome 2
Health Risk
RS104894203
Pathogenic
Cold-induced sweating syndrome 2, Cold-induced sweating syndrome 2
Health Risk
RS137853934
Pathogenic
Cold-induced sweating syndrome 2, Cold-induced sweating syndrome 2
Health Risk
RS137853935
Pathogenic
Cold-induced sweating syndrome 2, Cold-induced sweating syndrome 2
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS34057094 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS104894198 | Health Risk | Pathogenic | Cold-induced sweating syndrome 2, Cold-induced sweating syndrome 2 |
| RS104894203 | Health Risk | Pathogenic | Cold-induced sweating syndrome 2, Cold-induced sweating syndrome 2 |
| RS137853934 | Health Risk | Pathogenic | Cold-induced sweating syndrome 2, Cold-induced sweating syndrome 2 |
| RS137853935 | Health Risk | Pathogenic | Cold-induced sweating syndrome 2, Cold-induced sweating syndrome 2 |