Neuregulin 1 gene is mapped on chromosome 8p12 containing 19 exons which has different isoforms produced through alternative promoter usage and splicing expressed intissue specific manner that perform diverse functions such as inducingdifferentiation and growth of epithelial,glial, neuronal and skeletal muscle cells as well as inducing expression of acetylcholine receptor in synaptic vesicles during the formation of the neuromuscular junction.
Neuregulin 1 stimulates lobuloalveolar budding and milk production of mammary gland and differentiation of mammarytumor cells as well as invigorating Schwann cell proliferation. It also involved in the development of the myocardium like trabeculation of the heart, motor growth and neuron development.
Neuregulin 1 gene mutation is associated in cancer, schizophrenia, bipolar disorder and childhood-onset schizophrenia. Its isoform alpha expressed in ovary, breast, testis, heart,prostate, lung, placenta, skeletal muscle, kidney, liver, small intestine, salivary gland and brain while other isoforms present in mesenchymal cells, neuronal cells, spinal cord and nervous system.
Gene name: NRG1
Protein name: Pro-neuregulin-1, membrane-bound isoform