Target intelligence / Profile preview

Cytochrome c oxidase subunit 6A1, mitochondrial (COX6A1)

Target
COX6A1
Molecular classification
Enzyme (structural subunit), Mitochondrial electron transport chain protein, Oxidoreductase family
01

Overview

Cytochrome c oxidase subunit 6A1, mitochondrial (COX6A1) is a 12 kDa, 109 amino acid structural subunit of cytochrome c oxidase (Complex IV), encoded by nuclear DNA and expressed in non-muscle tissues. COX6A1 forms part of the enzyme complex responsible for the terminal reduction of oxygen to water in the mitochondrial electron transport chain, essential for ATP synthesis. Mutations in COX6A1 cause autosomal recessive Charcot-Marie-Tooth disease and other neuropathies. The subunit is crucial for the proper assembly and regulation of cytochrome c oxidase activity, although it does not directly participate in catalysis. There is no evidence of direct clinical therapeutic targeting of COX6A1, but impairment of its function results in significant mitochondrial dysfunction[1][2][3][4][5][9].

Other names
COX6A1COX6ACOX6ALCMTRIDCytochrome c oxidase polypeptide VIa-liverCytochrome c oxidase subunit VIA-liverCytochrome c oxidase subunit VIa liver isoformCytochrome c oxidase subunit VIa polypeptide 1
02

Mechanism of action

HIV-1 Tat: inhibition of overall cytochrome c oxidase activity, leading to loss of membrane potential and release of cytochrome c (apoptosis induction). Mitochondrial electron transport chain inhibitors: block electron flow, induce mitochondrial dysfunction, trigger apoptosis.

03

Biological functions

Electron transfer in respiratory chainOxidative phosphorylationATP synthesis regulationPossible regulation/assembly of Complex IV
04

Disease associations

Charcot-Marie-Tooth disease (CMT), recessive intermediate DHereditary motor and sensory neuropathy type VIa with optic atrophyNeuropathyPotential involvement in HIV-related mitochondrial dysfunction
05

Safety considerations

No established drugs targeting COX6A1Inhibition of Complex IV leads to severe mitochondrial toxicity (e.g., decreased ATP, cell death, neuropathy)Genetic mutations cause inherited neuropathies
06

Interacting drugs

HIV-1 Tat protein

2 more in the full profile.

07

Biomarkers

COX6A1 gene mutations (e.g., 5bp deletion) are biomarkers for some forms of Charcot-Marie-Tooth diseaseDecreased expression or activity may indicate mitochondrial disease or respiratory chain disorder

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