EMC6
ER Membrane Protein Complex Subunit 6
Gene Information Card
| Symbol | EMC6 |
|---|---|
| Full Name | ER Membrane Protein Complex Subunit 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.2 |
| NCBI Gene ID | 83460 ncbi.nlm.nih.gov/gene/83460 |
| Ensembl ID | ENSG00000108557 |
| UniProt ID | Q9BV81 |
| OMIM ID | 615884 |
| HGNC ID | 25776 |
| Aliases | TMEM93, MGC26694 |
Description
EMC6 encodes a subunit of the endoplasmic reticulum membrane protein complex (EMC), which is involved in the insertion of tail-anchored membrane proteins into the ER membrane. The EMC is essential for proper protein biogenesis, ER homeostasis, and cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia | Loss-of-function mutations in EMC6 impair ER membrane protein insertion, leading to axonal degeneration. | PMID: 32413282 |
| Neurodevelopmental disorder | Biallelic EMC6 variants cause intellectual disability and developmental delay via disrupted ER function. | ClinVar: RCV001851755 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 7.1 | Low |
| Kidney | 9.4 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney |
| HeLa | 8.7 | Cervical carcinoma |
| K562 | 6.4 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.226C>T (p.Arg76Trp) | Missense | <0.01% | Impaired EMC assembly |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function variants cause hereditary spastic paraplegia and neurodevelopmental disorders.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ER membrane protein complex | • protein insertion into ER membrane |
| • endoplasmic reticulum | • membrane |
Pathways
• ER membrane protein complex (EMC) pathway
• Tail-anchored protein insertion
Protein Summary
EMC6 is a 162-amino-acid transmembrane protein that localizes to the endoplasmic reticulum. It is a core component of the EMC, facilitating the insertion of tail-anchored proteins into the ER membrane. Loss of EMC6 disrupts ER homeostasis and is linked to neurological diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EMC6 Knockout HEK293 Cell Line | EDJ-KQ2642 | Human | 83460 | Details Get a Quote |
| EMC6 Knockout HCT 116 Cell Line | EDJ-KQ22037 | Human | 83460 | Details Get a Quote |
| EMC6 Knockout A-549 Cell Line | EDJ-KQ23404 | Human | 83460 | Details Get a Quote |
| EMC6 Knockout HeLa Cell Line | EDJ-KQ23405 | Human | 83460 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
