NP_115998.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
20,010 Da
NCBI Official Full Name
cytochrome c oxidase subunit 4 isoform 2, mitochondrial
NCBI Official Synonym Full Names
cytochrome c oxidase subunit 4I2
NCBI Official Synonym Symbols
COX4; COX4B; COX4-2; COX4L2; COXIV-2; dJ857M17.2 [Similar Products]
NCBI Protein Information
cytochrome c oxidase subunit 4 isoform 2, mitochondrial
UniProt Protein Name
Cytochrome c oxidase subunit 4 isoform 2, mitochondrial
UniProt Synonym Protein Names
Cytochrome c oxidase subunit IV isoform 2; COX IV-2
UniProt Synonym Gene Names
UniProt Entry Name
COX42_HUMAN
NCBI Summary for COX4I2
Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008]
UniProt Comments for COX4I2
COX4I2: This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. Defects in COX4I2 are the cause of exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH). Patients present with pancreatic insufficiency, intestinal malabsorption, failure to thrive, and anemia soon after birth. Belongs to the cytochrome c oxidase IV family.
Protein type: Mitochondrial; Oxidoreductase
Chromosomal Location of Human Ortholog: 20q11.21
Cellular Component: mitochondrial respiratory chain complex IV
Molecular Function: cytochrome-c oxidase activity
Biological Process: mitochondrial electron transport, cytochrome c to oxygen
Disease: Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Research Articles on COX4I2
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Pathways associated with COX4I2 blocking peptide
Diseases associated with COX4I2 blocking peptide
Disease Name |
Pubmed Publications |
Death Antibodies |
>3 publications with COX4I2 and Death |
Necrosis Antibodies |
>2 publications with COX4I2 and Necrosis |
Liver Diseases Antibodies |
>1 publications with COX4I2 and Liver Diseases |
Abnormalities, Multiple Antibodies |
>1 publications with COX4I2 and Abnormalities, Multiple |
Disease Models, Animal Antibodies |
>1 publications with COX4I2 and Disease Models, Animal |
Fatty Liver Antibodies |
>1 publications with COX4I2 and Fatty Liver |
Inflammation Antibodies |
>1 publications with COX4I2 and Inflammation |
Fibrosis Antibodies |
>1 publications with COX4I2 and Fibrosis |
Infertility, Male Antibodies |
>1 publications with COX4I2 and Infertility, Male |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis Antibodies |
>1 publications with COX4I2 and Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis |
Organs/Tissues associated with COX4I2 blocking peptide
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