NDUFB4

Description

The NDUFB4 (NADH:ubiquinone oxidoreductase subunit B4) is a protein-coding gene located on chromosome 3.

The NDUFB4 gene encodes a protein that is a subunit of NADH dehydrogenase (ubiquinone), the largest of the five complexes of the electron transport chain, located in the mitochondrial inner membrane. The NDUFB4 protein weighs 15 kDa and is composed of 129 amino acids. NDUFB4 is one of about 31 hydrophobic subunits that form the transmembrane region of Complex I and is a non-catalytic subunit. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of Complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and that the hydrophobic domain acts as an anchor for the NADH dehydrogenase (ubiquinone) complex at the inner mitochondrial membrane.

NDUFB4 is also known as B15, CI-B15.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing