CRLF1

CRLF1 (Cytokine Receptor Like Factor 1) is a Protein Coding gene. Diseases associated with CRLF1 include Cold-Induced Sweating Syndrome 1 and Cold-Induced Sweating Syndrome. Among its related pathways are Cytokine Signaling in Immune system and Innate Immune System. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and cytokine activity. An important paralog of this gene is PRLR.

Full Name

cytokine receptor-like factor 1

Function

In complex with CLCF1, forms a heterodimeric neurotropic cytokine that plays a crucial role during neuronal development (Probable). May also play a regulatory role in the immune system.

Biological Process

Cytokine-mediated signaling pathway Source: GO_Central
Interleukin-27-mediated signaling pathway Source: Reactome
Negative regulation of motor neuron apoptotic process Source: Ensembl
Negative regulation of neuron apoptotic process Source: BHF-UCL
Positive regulation of cell population proliferation Source: BHF-UCL
Positive regulation of tyrosine phosphorylation of STAT protein Source: BHF-UCL
Ureteric bud development Source: Ensembl

Cellular Location

Secreted

Involvement in disease

Crisponi/Cold-induced sweating syndrome 1 (CISS1):
An autosomal recessive disorder characterized by profuse sweating induced by cool surroundings (temperatures of 7 to 18 degrees Celsius). Patients manifest, in the neonatal period, orofacial weakness with impaired sucking and swallowing, resulting in poor feeding. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. These features are referred to as Crisponi syndrome and can result in early death in infancy. Patients who survive into childhood have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis.