43744-2

COX10 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

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Part Description

LP36619-2   COX10 gene
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

Fully-Specified Name

Component

COX10 gene targeted mutation analysis

Property

Find

Time

Pt

System

Bld/Tiss

Scale

Doc

Method

Molgen

Additional Names

Long Common Name

COX10 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method

Short Name

COX10 gene Mut Anl Bld/T

Display Name

COX10 gene targeted mutation analysis Molgen Doc (Bld/Tiss)

Consumer Name Alpha Get Info

COX10 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class

MOLPATH.MUT

Type

Laboratory

First Released

Version 2.17

Last Updated

Version 2.66 (MAJ)

Change Reason

Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.

Order vs. Observation

Both

Language Variants Get Info

Related Names

• Blood
• COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
• Cytochrome c oxidase subunit X
• Document
• Finding
• Findings
• Genetics
• Heredity
• Heritable
• Inherited
• Molecular genetics
• Molecular pathology
• MOLPATH
• MOLPATH.MUTATIONS
• Mut
• Mut Anl
• Mutations
• PCR
• Point in time
• Protoheme IX farnesyltransferase, mitochondrial precursor
• Random
• Tissue
• Tissue, unspecified
• WB
• Whole blood
• Whole blood or Tissue

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CodeSystem lookup

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=43744-2

LOINC Copyright

Copyright © 2025 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://loinc.org/license for the full LOINC copyright and license.