LP36623-4
SCO2 gene
Active
Description
The SCO2 gene (SCO2 cytochrome c oxidase assembly protein) [HGNC Gene ID:10604] is located on chromosome 22q13.33. Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014] [NCBI Gene ID:9997] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- SCO2 gene
- Part Display Name
- SCO2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-02-16
- Construct for LOINC Short Name
- SCO2 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | SCO2 基因 Synonyms: SCO 细胞色素氧化酶缺乏同源基因 2 (酵母); |
| et-EE | Estonian (Estonia) | SCO2 geen |
| es-ES | Spanish (Spain) | Gen SCO2 |
| it-IT | Italian (Italy) | SCO2, gene Synonyms: Gene SCO2 |
| tr-TR | Turkish (Turkey) | SCO2 geni |
| ru-RU | Russian (Russian Federation) | SCO2 ген |
| nl-NL | Dutch (Netherlands) | SCO2-gen Synonyms: SCO2 gen |
| fr-FR | French (France) | SCO2 gène |
| pl-PL | Polish (Poland) | SCO2 gen Synonyms: Gen SCO2 |
| el-GR | Greek (Greece) | Γονίδιο SCO2 Synonyms: Γονίδιο SCO2 |
LOINC Copyright
Copyright © Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://