COX7B: Cytochrome c Oxidase Subunit 7B
Mitochondrial Complex IV Nuclear-Encoded Subunit
Gene Information Card
| Symbol | COX7B |
|---|---|
| Full Name | cytochrome c oxidase subunit 7B |
| Gene Type | protein-coding |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 1349 ncbi.nlm.nih.gov/gene/1349 |
| Ensembl ID | ENSG00000131174 |
| UniProt ID | P24311 |
| OMIM ID | 300772 |
| HGNC ID | 2291 |
| Aliases | COX7B1, COX7B2, COX7B3, COX7B4, COX7B5, COX7B6, COX7B7, COX7B8, COX7B9, COX7B10, COX7B11, COX7B12, COX7B13, COX7B14, COX7B15, COX7B16, COX7B17, COX7B18, COX7B19, COX7B20, COX7B21, COX7B22, COX7B23, COX7B24, COX7B25, COX7B26, COX7B27, COX7B28, COX7B29, COX7B30, COX7B31, COX7B32, COX7B33, COX7B34, COX7B35, COX7B36, COX7B37, COX7B38, COX7B39, COX7B40, COX7B41, COX7B42, COX7B43, COX7B44, COX7B45, COX7B46, COX7B47, COX7B48, COX7B49, COX7B50, COX7B51, COX7B52, COX7B53, COX7B54, COX7B55, COX7B56, COX7B57, COX7B58, COX7B59, COX7B60, COX7B61, COX7B62, COX7B63, COX7B64, COX7B65, COX7B66, COX7B67, COX7B68, COX7B69, COX7B70, COX7B71, COX7B72, COX7B73, COX7B74, COX7B75, COX7B76, COX7B77, COX7B78, COX7B79, COX7B80, COX7B81, COX7B82, COX7B83, COX7B84, COX7B85, COX7B86, COX7B87, COX7B88, COX7B89, COX7B90, COX7B91, COX7B92, COX7B93, COX7B94, COX7B95, COX7B96, COX7B97, COX7B98, COX7B99, COX7B100 |
Description
COX7B encodes a nuclear-encoded subunit of cytochrome c oxidase (Complex IV), the terminal enzyme of the mitochondrial respiratory chain. This subunit is essential for the assembly and function of the holoenzyme, which catalyzes the transfer of electrons from cytochrome c to molecular oxygen, coupled with proton pumping across the inner mitochondrial membrane. Mutations in COX7B are associated with mitochondrial complex IV deficiency and related disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency | Loss-of-function mutations impair cytochrome c oxidase activity, reducing ATP production and causing oxidative stress. | ClinVar, OMIM #300772 |
| Leigh syndrome | Deficiency in complex IV leads to neurodegeneration and metabolic failure in early childhood. | ClinVar, OMIM #256000 |
| Cardioencephalomyopathy | Combined cardiac and neurological dysfunction due to mitochondrial energy failure. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal muscle | 10.2 | High |
| Liver | 6.8 | Medium |
| Brain | 5.4 | Medium |
| Kidney | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 8.3 | Cervical cancer cell line |
| HEK293 | 7.1 | Embryonic kidney cells |
| SH-SY5Y | 6.5 | Neuroblastoma cell line |
| HepG2 | 5.9 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1Thr) | Missense | Rare | Loss of start codon, likely loss of function |
| c.118G>A (p.Gly40Arg) | Missense | Rare | Impaired protein stability and complex IV assembly |
| c.205C>T (p.Arg69Trp) | Missense | Rare | Reduced enzymatic activity |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations reduce or abolish COX7B function, leading to complex IV deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects documented; X-linked inheritance pattern suggests hemizygous loss in males.
View complete mutation data：
Gene Ontology (GO)
| • cytochrome-c oxidase activity (GO:0004129) | • integral component of membrane (GO:0016021) |
| • mitochondrion (GO:0005739) | • mitochondrial inner membrane (GO:0005743) |
| • oxidative phosphorylation (GO:0006119) | • respiratory electron transport chain (GO:0022904) |
Pathways
• KEGG: hsa00190 - Oxidative phosphorylation
• Reactome: R-HSA-611105 - Respiratory electron transport
• Reactome: R-HSA-163200 - Formation of ATP by chemiosmotic coupling
Protein Summary
COX7B is a small (7.5 kDa) integral membrane protein localized to the mitochondrial inner membrane. It is one of 13 nuclear-encoded subunits of cytochrome c oxidase, which is composed of 14 subunits in humans. The protein contains a single transmembrane domain and is essential for the structural integrity and catalytic efficiency of Complex IV. Defects in COX7B disrupt electron transfer and proton pumping, leading to mitochondrial dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COX7B2 Knockout HEK293 Cell Line | EDJ-KQ12984 | Human | 170712 | Details Get a Quote |
| COX7B Knockout HEK293 Cell Line | EDJ-KQ50204 | Human | 1349 | Details Get a Quote |
| COX7B Knockout HeLa Cell Line | EDJ-KQ52964 | Human | 1349 | Details Get a Quote |
| COX7B2 Knockout HeLa Cell Line | EDJ-KQ58947 | Human | 170712 | Details Get a Quote |
| COX7B Knockout A-549 Cell Line | EDJ-KQ61432 | Human | 1349 | Details Get a Quote |
| COX7B2 Knockout A-549 Cell Line | EDJ-KQ67435 | Human | 170712 | Details Get a Quote |
| COX7B Knockout HCT 116 Cell Line | EDJ-KQ69928 | Human | 1349 | Details Get a Quote |
| COX7B2 Knockout HCT 116 Cell Line | EDJ-KQ75830 | Human | 170712 | Details Get a Quote |
