The Endophilins comprise a family of proteins that associate with Amphiphysin, Synaptojanin and Dynamin and are implicated in presynaptic vesicle trafficking at nerve terminals. The expression patterns of the Endophilins are consistent with their cellular functions at the neuronal synapse. Endophilin B1 is a member of the B subgroup of the Endophilin family that is required for maintenance of mitochondrial morphology and for the regulation of the outer mitochondrial membrane dynamics. Endophilin B2 is also a member of the Endophilin B subroup that is ubiquitously expressed but shows highest levels in brain, adult lung, ovary, and spinal cord. Decreased levels of Endophilin B2 are found in Down Syndrome and may reflect brain dysgenesis.
