Version 2.80

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP36619-2
ConceptMap translate
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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;细胞色素 C 氧化酶亚单位 X;细胞色素 C 氧化酶亚基 X;血红素 IX 法呢基转移酶, 线粒体性前体
es-ES Spanish (Spain) Gen COX10
it-IT Italian (Italy) COX10, gene
Synonyms: Gene COX10
et-EE Estonian (Estonia) COX10 geen
tr-TR Turkish (Turkey) COX10 geni
ru-RU Russian (Russian Federation) COX10 ген
nl-NL Dutch (Netherlands) COX10-gen
Synonyms: COX10 gen
el-GR Greek (Greece) Γονίδιο COX10
Synonyms: Γονίδιο COX10