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NADH dehydrogenase [ubiquinone] 1 subunit C2-KCTD14 readthrough transcript protein (NDUFC2-KCTD14)

Target
NDUFC2-KCTD14
Molecular classification
Other
01

Overview

NADH dehydrogenase [ubiquinone] 1 subunit C2-KCTD14 readthrough transcript protein (NDUFC2-KCTD14) is a protein product of a naturally occurring read-through event between the neighboring **NDUFC2** (NADH dehydrogenase [ubiquinone] 1 subunit C2) and **KCTD14** (potassium channel tetramerization domain containing 14) genes on chromosome 11[1][3][6]. The resulting protein is an accessory subunit of the mitochondrial membrane respiratory chain Complex I (NADH:ubiquinone oxidoreductase)[1][3][8]. This subunit is believed not to be catalytically active but instead plays a structural or assembly role in the proper functioning of Complex I, which is responsible for transferring electrons from NADH to ubiquinone in the mitochondrial respiratory chain[1][3][8]. The gene and protein are associated with disorders such as **Mitochondrial Complex I Deficiency** and mitochondrial diseases[1]. The protein is not currently considered a direct therapeutic target, and there is no evidence for approved or investigational drugs specifically modulating its function[1][3][5]. The functional significance of the readthrough fusion, as distinct from the canonical NDUFC2, remains to be clarified in terms of pathophysiology and clinical actionability.

Other names
NDUFC2-KCTD14NDUFC2-KCTD14 readthroughNADH dehydrogenase [ubiquinone] 1 subunit C2, isoform 2NDUFC2-KCTD14 readthrough transcript protein
02

Biological functions

Mitochondrial electron transportAccessory subunit for respiratory chain Complex I
03

Disease associations

Mitochondrial diseaseMitochondrial Complex I deficiency

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