LP36619-2
COX10 gene
Active
Description
The COX10 gene (COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor) [HGNC Gene ID:2260] is located on chromosome 17p12. Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component 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 function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008] [NCBI Gene ID:1352] 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
- COX10 gene
- Part Display Name
- COX10 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2006-02-16
- Construct for LOINC Short Name
- COX10 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) | COX10 基因 Synonyms: 正铁血红素 IX 法呢基转移酶, 线粒体性前体; |
| et-EE | Estonian (Estonia) | COX10 geen |
| es-ES | Spanish (Spain) | Gen COX10 |
| it-IT | Italian (Italy) | COX10, gene Synonyms: Gene COX10 |
| tr-TR | Turkish (Turkey) | COX10 geni |
| ru-RU | Russian (Russian Federation) | COX10 ген |
| nl-NL | Dutch (Netherlands) | COX10-gen Synonyms: COX10 gen |
| fr-FR | French (France) | COX10 gène |
| pl-PL | Polish (Poland) | COX10 gen Synonyms: Gen COX10 |
| el-GR | Greek (Greece) | Γονίδιο COX10 Synonyms: Γονίδιο COX10 |
LOINC Copyright
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