The gene bin1 encodes a bridging integrator 1 protein which functions as an adapter protein involved in intracellular trafficking and membrane dynamics. In embryos, bin1 is expressed in the developing ...[+]

The gene bin1 encodes a bridging integrator 1 protein which functions as an adapter protein involved in intracellular trafficking and membrane dynamics. In embryos, bin1 is expressed in the developing brain, cranial ganglia, eye, otic vesicle, spinal cord, and somites. The bin1 protein localizes to the cytoplasm. [-]

             centronuclear myopathy 2

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD