Entrez gene ID | | 23529 |
Official gene symbol | | CLCF1 |
Full name | | cardiotrophin-like cytokine factor 1 |
Aliases | | ,BSF-3,BSF3,CISS2,CLC,NNT-1,NNT1,NR6, |
Gene summary | | 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. |
Location | | Chromosome: 11 Locus: 11q13.3 |
Gene position | | 67141648 - 67131639 Map Viewer |
Gene orientation | | minus |
Gene size | | 10010 bp |
Gene sequence |
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OMIM ID | | 607672 |
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