EMC6
Description
The EMC6 (ER membrane protein complex subunit 6) is a protein-coding gene located on chromosome 17.
EMC6 is part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion of newly synthesized membrane proteins into endoplasmic reticulum membranes. EMC6 preferentially accommodates proteins with transmembrane domains that are weakly hydrophobic or contain destabilizing features such as charged and aromatic residues. EMC6 is involved in the cotranslational insertion of multi-pass membrane proteins in which stop-transfer membrane-anchor sequences become ER membrane spanning helices. It is also required for the post-translational insertion of tail-anchored/TA proteins in endoplasmic reticulum membranes. By mediating the proper cotranslational insertion of N-terminal transmembrane domains in an N-exo topology, with translocated N-terminus in the lumen of the ER, EMC6 controls the topology of multi-pass membrane proteins like the G protein-coupled receptors. By regulating the insertion of various proteins in membranes, it is indirectly involved in many cellular processes.
EMC6 is also known as RAB5IFL, TMEM93.
Associated Diseases
- cancer
- pachyonychia congenita
- primary familial polycythemia due to EPO receptor mutation
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- X-linked sideroblastic anemia 1
- erythrocytosis, familial, 3
- erythrocytosis, familial, 6
- 46,XX ovotesticular disorder of sex development
- erythrocytosis, familial, 4
- 46,XY complete gonadal dysgenesis
- glioblastoma
