The mbip protein is an endoplasmic reticulum membrane-bound chaperone involved in the unfolded protein response pathway. It functions during embryogenesis with expression detected in the brain and neur...[+]

The mbip protein is an endoplasmic reticulum membrane-bound chaperone involved in the unfolded protein response pathway. It functions during embryogenesis with expression detected in the brain and neural tube. The protein localizes to the endoplasmic reticulum where it facilitates protein folding and quality control. [-]

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