LIFR

The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.

The box 1 motif is required for JAK interaction and/or activation.

Signal-transducing molecule. May have a common pathway with IL6ST. The soluble form inhibits the biological activity of LIF by blocking its binding to receptors on target cells.

Stuve-Wiedemann syndrome 1

STWS1

A form of Stuve-Wiedemann syndrome, an autosomal recessive disease characterized by bowing of tubular bones and other skeletal and craniofacial abnormalities, respiratory distress, feeding difficulties, and hyperthermic episodes. Most patients do not survive past infancy.

None

The disease is caused by variants affecting the gene represented in this entry.

A chromosomal aberration involving LIFR is found in salivary gland pleiomorphic adenomas, the most common benign epithelial tumors of the salivary gland. Translocation t(5;8)(p13;q12) with PLAG1.

Belongs to the type I cytokine receptor family. Type 2 subfamily.

• Isoform 1
• Cell membrane
• Single-pass type I membrane protein
• Isoform 2
• Secreted

CD118, Leukemia inhibitory factor receptor, LIF receptor, LIF-R, LIFR

• entrezGene:3977
• omim:151443
• swissprot:P42702

Proteins

Immunology & Infectious Disease

123743Da