Summary
Cytochrome c oxidase subunit 8A (COX8A) is a protein that in humans is encoded by the COX8A gene.[5] Cytochrome c oxidase 8A is a subunit of the cytochrome c oxidase complex, also known as Complex IV. Mutations in the COX8A gene have been associated with complex IV deficiency with Leigh syndrome and epilepsy.[6]
| COX8A | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | COX8A, COX, COX8, COX8-2, COX8L, VIII, VIII-L, cytochrome c oxidase subunit 8A, MC4DN15 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 123870 MGI: 105959 HomoloGene: 3006 GeneCards: COX8A | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Structure edit
COX8A is a 7.6 kDa protein composed of 69 amino acids.[7][8] This gene encodes the nuclear-encoded subunit 8A of the human mitochondrial respiratory chain enzyme complex cytochrome c oxidase. The complex consists of 13 mitochondrial- and nuclear-encoded subunits.[5]
Function edit
Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The mitochondrially-encoded subunits perform the electron transfer of proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex.[5]
Clinical significance edit
COX8A is a subunit of cytochrome c oxidase and its function is important for the efficacy of complex IV. Mutations in COX8A can affect complex IV of the electron transport chain, resulting in complex IV deficiency. This disorder can have a wide range of clinical manifestations including Leigh syndrome, leukodystrophy, and severe epilepsy.[6]
Interactions edit
COX8A has been shown to have 19 binary protein-protein interactions including 7 co-complex interactions. COX8A appears to interact with NPM1, MAGEA4, EDDM3B, BATF, AMBP, CREB1, and NCOR1.[9]
References edit
- ^ a b c GRCh38: Ensembl release 89: ENSG00000176340 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035885 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b c "Entrez Gene: Cytochrome c oxidase subunit VIIIA (ubiquitous)".
- ^ a b Hallmann K, Kudin AP, Zsurka G, Kornblum C, Reimann J, Stüve B, Waltz S, Hattingen E, Thiele H, Nürnberg P, Rüb C, Voos W, Kopatz J, Neumann H, Kunz WS (February 2016). "Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy". Brain. 139 (Pt 2): 338–45. doi:10.1093/brain/awv357. PMID 26685157.
- ^ Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (Oct 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475. PMID 23965338.
- ^ "Cytochrome c oxidase subunit 8A". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). Archived from the original on 2018-07-20. Retrieved 2018-07-18.
- ^ "19 binary interactions found for search term COX8A". IntAct Molecular Interaction Database. EMBL-EBI. Retrieved 2018-08-25.
External links edit
- Human COX8A genome location and COX8A gene details page in the UCSC Genome Browser.
- Mass spectrometry characterization of COX8A at COPaKB[permanent dead link]
This article incorporates text from the United States National Library of Medicine, which is in the public domain.