NDUFB2

Description

The NDUFB2 (NADH:ubiquinone oxidoreductase subunit B2) is a protein-coding gene located on chromosome 7.

The NDUFB2 gene encodes a protein called NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrial. This protein is a component of Complex I, the largest of the five complexes in the electron transport chain located within the mitochondrial inner membrane. Complex I is responsible for transferring electrons from NADH to ubiquinone. The NDUFB2 gene is located on chromosome 7 and spans 9,966 base pairs, consisting of 4 exons. The protein itself is composed of 105 amino acids and weighs 12 kDa. While NDUFB2 is a subunit of Complex I, it is considered an accessory subunit, meaning it is not directly involved in the catalytic activity of the complex. The structure of Complex I is L-shaped with a hydrophobic transmembrane domain and a hydrophilic domain. NDUFB2, along with other subunits, contributes to the transmembrane region of Complex I. The hydrophobic domain of NDUFB2 serves as an anchor for the complex within the inner mitochondrial membrane.

NDUFB2 is also known as AGGG, CI-AGGG.

Associated Diseases

WES Whole Exome Sequencing