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Rabbit Anti-NNT1/BSF3 antibody
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]
Function:
Cytokine with B-cell stimulating capability. Binds to and activates the ILST/gp130 receptor.
Subcellular Location:
Secreted.
Tissue Specificity:
Expressed predominantly in lymph nodes, spleen, peripheral blood lymphocytes, bone marrow, and fetal liver.
DISEASE:
Defects in CLCF1 are the cause of cold-induced sweating syndrome type 2 (CISS2) [MIM:610313]. Cold-induced sweating syndrome (CISS) is an autosomal recessive disorder characterized by profuse sweating induced by cool surroundings (temperatures of 7 to 18 degrees Celsius). Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis.
Similarity:
Belongs to the IL-6 superfamily.
SWISS:
P40261
Gene ID:
23529
Database links:
Entrez Gene: 23529 Human
Entrez Gene: 56708 Mouse
Entrez Gene: 365395 Rat
Omim: 607672 Human
SwissProt: P40261 Human
SwissProt: Q9QZM3 Mouse
Unigene: 502977 Human
Unigene: 347919 Mouse
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