NDUFA4L2

Description

The NDUFA4L2 (NDUFA4 mitochondrial complex associated like 2) is a protein-coding gene located on chromosome 12.

The NDUFA4L2 gene, located on chromosome 12, encodes the NDUFA4L2 protein, a subunit of NADH dehydrogenase (ubiquinone), a key component of the electron transport chain within the mitochondria. This complex is responsible for transferring electrons from NADH to ubiquinone. The NDUFA4L2 protein has a distinctive L-shaped structure with a hydrophobic transmembrane domain and a hydrophilic domain. The hydrophobic domain anchors the complex to the inner mitochondrial membrane, while the hydrophilic domain interacts with other subunits of Complex I. The conserved two-domain structure highlights its essential role in protein function. The NDUFA4L2 protein is involved in the transfer of electrons through a series of iron-sulfur (Fe-S) clusters, ultimately leading to the reduction of CoQ to CoQH2. This electron flow triggers a conformational change and pK shift in the ionizable side chain, resulting in the pumping of four hydrogen ions out of the mitochondrial matrix.

The NDUFA4L2 gene codes for a subunit of Complex I, part of the respiratory chain, which is responsible for transferring electrons from NADH to ubiquinone. The process starts with NADH binding to Complex I, transferring two electrons to FMN, forming FMNH2. These electrons are then transferred through Fe-S clusters in the prosthetic arm, finally reaching CoQ, which gets reduced to CoQH2. This electron flow alters the redox state of the protein, causing a conformational change and a pK shift in the ionizable side chain, which in turn pumps four hydrogen ions out of the mitochondrial matrix.

NDUFA4L2 is also known as COXFA4L2, MISTRH, NUOMS.

Associated Diseases

WES Whole Exome Sequencing