About: COX7B

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Cytochrome c oxidase subunit 7B, mitochondrial (COX7B) is an enzyme that in humans is encoded by the COX7B gene. COX7B is a nuclear-encoded subunit of cytochrome c oxidase (COX). Cytochrome c oxidase (complex IV) 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, acting as the terminal enzyme of the mitochondrial respiratory chain. Work with Oryzias latices has linked disruptions in COX7B with microphthalmia with linear skin lesions (MLS), microcephaly, and mitochondrial disease. Clinically, mutations in COX7B have been associated with linear skin defects with multiple congenital anomalies.

Attributes	Values
rdf:type	Thing Biomolecule gene Biomolecule Gene HumanGene protein
rdfs:label	COX7B (en) COX7B (es) COX7B (uk)
rdfs:comment	Cytochrome c oxidase subunit 7B, mitochondrial (COX7B) is an enzyme that in humans is encoded by the COX7B gene. COX7B is a nuclear-encoded subunit of cytochrome c oxidase (COX). Cytochrome c oxidase (complex IV) 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, acting as the terminal enzyme of the mitochondrial respiratory chain. Work with Oryzias latices has linked disruptions in COX7B with microphthalmia with linear skin lesions (MLS), microcephaly, and mitochondrial disease. Clinically, mutations in COX7B have been associated with linear skin defects with multiple congenital anomalies. (en) COX7B (англ. Cytochrome c oxidase subunit 7B) – білок, який кодується однойменним геном, розташованим у людей на X-хромосомі. Довжина поліпептидного ланцюга білка становить 80 амінокислот, а молекулярна маса — 9 161. Послідовність амінокислот A: АланінC: ЦистеїнD: Аспарагінова кислотаE: Глутамінова кислотаF: ФенілаланінG: ГліцинH: ГістидинI: ІзолейцинK: ЛізинL: ЛейцинM: МетіонінN: АспарагінP: ПролінQ: ГлутамінR: АргінінS: СеринT: ТреонінV: ВалінW: Триптофан Y: Тирозин Локалізований у мембрані, мітохондрії, внутрішній мембрані мітохондрії. (uk) La subunidad 7B de la citocromo c oxidasa mitocondrial (COX7B) es una enzima que en los seres humanos está codificada por el gen COX7B. COX7B es una subunidad codificada en el núcleo de la citocromo c oxidasa (COX). La citocromo c oxidasa (complejo IV ) es un complejo enzimático de múltiples subunidades que acopla la transferencia de electrones del citocromo c al oxígeno molecular y contribuye a un gradiente electroquímico de protones a través de la membrana mitocondrial interna, actuando como la enzima terminal de la cadena respiratoria mitocondrial. El trabajo con los latices de Oryzias ha vinculado las alteraciones de la COX7B con la microftalmia con lesiones cutáneas lineales (MLS), microcefalia y enfermedad mitocondrial. Clínicamente, las mutaciones en COX7B se han asociado con defe (es)
Wikipage page ID	15228604 (xsd:integer)
Wikipage revision ID	1063657130 (xsd:integer)
Link from a Wikipage to another Wikipage	Electrochemical gradient Electron transfer Electron transport chain Mitochondrial disease Mutation Morpholino Aplasia cutis congenita Hydronium Cytochrome c Cytochrome c oxidase subunit I Vertebrate Visual evoked potentials Inner mitochondrial membrane Intron GNMT Nuclear gene Protein–protein interaction Pseudogene Signal peptide Genitourinary system Nonsense mutation Zygosity Citrin Electron Enzyme Gene Mitochondrion Optic disc pallor Agenesis of the corpus callosum Japanese rice fish Locus (genetics) Amino acid Cytochrome c oxidase Oxygen Central nervous system Chromosome 1 Chromosome 2 Chromosome 20 Chromosome 22 Frameshift mutation Protein Heteromer X chromosome Mitochondrial DNA Mitochondrial matrix Model organism Diaphragmatic hernia Facial dysmorphism Intellectual disability Microcephaly Microphthalmia Ortholog MYB (gene) Short stature Exon Transmembrane domain Nail disease Splice site mutation Mitochondrial intermembrane space X-linked dominant inheritance Down-regulation Mitochondrial respiratory chain Skin lesions Congenital anomalies
sameAs	COX7B COX7B COX7B COX7B COX7B COX7B
dbp:wikiPageUsesTemplate	dbt:Cite_book dbt:Cite_journal dbt:Infobox_gene dbt:Refbegin dbt:Refend dbt:Reflist dbt:Short_description dbt:UCSC_gene_info dbt:NLM_content
has abstract	Cytochrome c oxidase subunit 7B, mitochondrial (COX7B) is an enzyme that in humans is encoded by the COX7B gene. COX7B is a nuclear-encoded subunit of cytochrome c oxidase (COX). Cytochrome c oxidase (complex IV) 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, acting as the terminal enzyme of the mitochondrial respiratory chain. Work with Oryzias latices has linked disruptions in COX7B with microphthalmia with linear skin lesions (MLS), microcephaly, and mitochondrial disease. Clinically, mutations in COX7B have been associated with linear skin defects with multiple congenital anomalies. (en) La subunidad 7B de la citocromo c oxidasa mitocondrial (COX7B) es una enzima que en los seres humanos está codificada por el gen COX7B. COX7B es una subunidad codificada en el núcleo de la citocromo c oxidasa (COX). La citocromo c oxidasa (complejo IV ) es un complejo enzimático de múltiples subunidades que acopla la transferencia de electrones del citocromo c al oxígeno molecular y contribuye a un gradiente electroquímico de protones a través de la membrana mitocondrial interna, actuando como la enzima terminal de la cadena respiratoria mitocondrial. El trabajo con los latices de Oryzias ha vinculado las alteraciones de la COX7B con la microftalmia con lesiones cutáneas lineales (MLS), microcefalia y enfermedad mitocondrial. Clínicamente, las mutaciones en COX7B se han asociado con defectos cutáneos lineales con múltiples anomalías congénitas. (es) COX7B (англ. Cytochrome c oxidase subunit 7B) – білок, який кодується однойменним геном, розташованим у людей на X-хромосомі. Довжина поліпептидного ланцюга білка становить 80 амінокислот, а молекулярна маса — 9 161. Послідовність амінокислот A: АланінC: ЦистеїнD: Аспарагінова кислотаE: Глутамінова кислотаF: ФенілаланінG: ГліцинH: ГістидинI: ІзолейцинK: ЛізинL: ЛейцинM: МетіонінN: АспарагінP: ПролінQ: ГлутамінR: АргінінS: СеринT: ТреонінV: ВалінW: Триптофан Y: Тирозин Локалізований у мембрані, мітохондрії, внутрішній мембрані мітохондрії. (uk)
gold:hypernym	Enzyme
prov:wasDerivedFrom	wikipedia-en:COX7B?oldid=1063657130&ns=0
page length (characters) of wiki page	10415 (xsd:nonNegativeInteger)

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