EMC4
Description
The EMC4 (ER membrane protein complex subunit 4) is a protein-coding gene located on chromosome 15.
EMC4 is a component of the endoplasmic reticulum membrane protein complex (EMC). It functions in the energy-independent insertion of newly synthesized membrane proteins into the endoplasmic reticulum (ER) membrane. EMC4 specifically helps insert proteins with transmembrane domains that are weakly hydrophobic or contain destabilizing features like charged and aromatic residues. It participates in the cotranslational insertion of multi-pass membrane proteins, where stop-transfer membrane-anchor sequences become ER membrane spanning helices. Additionally, EMC4 is crucial for the post-translational insertion of tail-anchored (TA) proteins into the ER membrane. By facilitating the correct cotranslational insertion of N-terminal transmembrane domains with an N-exo topology, where the N-terminus is located in the ER lumen, EMC4 controls the topology of multi-pass membrane proteins, including G protein-coupled receptors. Through its role in regulating protein insertion into membranes, EMC4 indirectly influences numerous cellular processes.
EMC4 is also known as PIG17, TMEM85.
Associated Diseases
- lysosomal storage disease
- Alzheimer disease
- multiple sclerosis
- Parkinson disease
- agenesis of the corpus callosum with peripheral neuropathy
- linear and whorled nevoid hypermelanosis
- uncombable hair syndrome
- primary immunodeficiency syndrome due to p14 deficiency
- Griscelli syndrome type 3
- neutropenia, severe congenital, 1, autosomal dominant
- idiopathic hypereosinophilic syndrome
- Clouston syndrome
