The Endoplasmic Reticulum (ER) membrane protein complex is an important transmembrane complex involved in protein folding, ER-mitochondria crosstalk and speculatively, the elimination of misfolded membrane proteins. Aberrations in these processes have been found to result in neurodegeneration. The EMC1 gene encodes a transmembrane protein that forms one of the ten subunits of the ER protein complex.
Mutations in this gene have been associated with Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation (CAVIPMR), a recently diagnosed neurodegenerative disorder. The gene has also been speculated to be associated with Retinitis Pigmentosa, although this is yet to be confirmed.