Cytokine Receptor Like Factor 1 (CRLF1) Antibody – Rabbit Polyclonal

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]

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.

Protein type: Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 19p13.11

Cellular Component: 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 Stat3 protein

Disease: Cold-induced Sweating Syndrome 1