Receptor tyrosine-protein kinase erbB-4 is anenzyme that in humans is encoded by theERBB4gene.[5][6] Alternatively spliced variants that encode different protein isoforms have been described; however, not all variants have been fully characterized.[7]
Receptor tyrosine-protein kinase erbB-4 is areceptor tyrosine kinase that is a member of theepidermal growth factor receptor family. ERBB4 is a single-passtype I transmembrane protein with multiplefurin-like cysteine rich domains, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and aPDZ domain binding motif. The protein binds to and is activated byneuregulins-2, -3 and -4,heparin-binding EGF-like growth factor andbetacellulin. Ligand binding induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment.[7]
Mutations in this gene have been associated with cancer.[7] Othersingle-nucleotide polymorphisms and a risk haplotype have been linked toschizophrenia.[8]Single-nucleotide polymorphisms in ERBB4 have also been found in a study of patients with familialamyotrophic lateral sclerosis type 19.[9]
ERBB4 has been shown tointeract with:
