Isolated oxidative phosphorylation…

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Isolated oxidative phosphorylation complex disorder

ORPHA:254846Category

Also called Isolated respiratory chain complex disorder

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Category

Genes reported in subtypes

ATP5F1AATP5F1DATP5F1EATP5MKATP5POATPAF2BCS1LCOA3COX10COX14COX16COX20COX4I1COX5ACOX6A2COX6B1COX8ACYC1FOXRED1LYRM7MT-ATP6MT-ATP8MT-CO1MT-CO2MT-CO3MT-CYBMT-ND1MT-ND2MT-ND3NDUFA1NDUFA11NDUFA6NDUFA9NDUFAF1NDUFAF2NDUFAF3NDUFAF4NDUFAF5NDUFAF8NDUFB10NDUFB11NDUFB3NDUFB9NDUFS1NDUFS2NDUFS3NDUFS4NDUFS6NDUFS7NDUFS8NDUFV1NDUFV2NUBPLPET117SDHASDHAF1SDHBSDHDTIMMDC1TMEM126BTTC19UQCC2UQCC3UQCRBUQCRC2UQCRFS1UQCRQ

Orphanet records these genes on 5 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MONDO 66UMLS C5679632

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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