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CRLF1 Cytokine receptor subunit, possibly playing a regulatory role in the immune system and during fetal development. May be involved in nervous system development. Defects in CRLF1 are the cause of cold-induced sweating syndrome type 1 (CISS1). 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. Defects in CRLF1 are the cause of Crisponi syndrome (CRISPS). 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. Belongs to the type I cytokine receptor family. Type 3 subfamily. Note: This description may include information from UniProtKB.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 19p13.11
Cellular Component: cytosol; extracellular region; extracellular space
Molecular Function: ciliary neurotrophic factor receptor binding; cytokine activity; cytokine binding; protein binding; protein heterodimerization activity; receptor activity
Biological Process: negative regulation of neuron apoptosis; positive regulation of cell proliferation; positive regulation of tyrosine phosphorylation of STAT protein; ureteric bud development
Disease: Cold-induced Sweating Syndrome 1
Reference #:  O75462 (UniProtKB)
Alt. Names/Synonyms: CISS; CISS1; class I cytokine receptor; CLF; CLF-1; CRLF1; Cytokine receptor-like factor 1; cytokine type 1 receptor CRLP-1; Cytokine-like factor 1; NR6; ZcytoR5
Gene Symbols: CRLF1
Molecular weight: 46,302 Da
Basal Isoelectric point: 9.3  Predict pI for various phosphorylation states
CST Pathways:  PI3K/Akt Signaling
Select Structure to View Below


Protein Structure Not Found.

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