基因名称(Gene Name)
CRLF1 UNQ288/PRO327
蛋白名称
Cytokine receptor-like factor 1 (Cytokine-like factor 1) (CLF-1) (ZcytoR5)
免疫原
Synthesized peptide derived from human protein . at AA range: 50-130
特异性
CRLF1 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
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. [provided by RefSeq, Oct 2009],
功能
disease:Defects in CRLF1 are the cause of cold-induced sweating syndrome 1 (CISS1) [MIM:272430]. 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.,disease:Defects in CRLF1 are the cause of Crisponi syndrome [MIM:601378]. Crisponi syndrome is a rare autosomal recessive disorder characterized by congenital muscular contractions of facial muscles, with trismus in response to stimuli, dysmorphic features, bilateral camptodactyly, major feeding and respiratory difficulties, and access of hyperthermia leading to death in the first months of life.,domain:The WSXWS motif appears to be necessary for proper protein folding a
