NDUFB1

Description

The NDUFB1 (NADH:ubiquinone oxidoreductase subunit B1) is a protein-coding gene located on chromosome 14.

NDUFB1, or NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1, is an enzyme encoded by the NDUFB1 gene in humans. This protein is a component of the NADH dehydrogenase (ubiquinone) complex, also known as Complex I, which resides within the mitochondrial inner membrane. Complex I is the largest of the five complexes in the electron transport chain and plays a crucial role in cellular respiration. The NDUFB1 gene is located on chromosome 14 and spans 5,687 base pairs. The resulting protein weighs 7 kDa and consists of 58 amino acids. NDUFB1 is one of approximately 31 hydrophobic subunits that make up the transmembrane region of Complex I. Its structure is L-shaped with a long hydrophobic transmembrane domain and a hydrophilic domain for the peripheral arm. The hydrophobic domain anchors Complex I to the inner mitochondrial membrane, while the hydrophilic domain interacts with other globular subunits. The conserved two-domain structure highlights the importance of this feature for the protein's function. Although NDUFB1 is part of Complex I, it is not believed to be directly involved in the catalytic process of electron transfer from NADH to ubiquinone.

NDUFB1 is also known as CI-MNLL, CI-SGDH, MNLL.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing