NDUFAB1

Description

The NDUFAB1 (NADH:ubiquinone oxidoreductase subunit AB1) is a protein-coding gene located on chromosome 16.

NDUFAB1 is a protein encoded by the NDUFAB1 gene in humans. It is a subunit of NADH dehydrogenase (ubiquinone), a complex located in the mitochondrial inner membrane and a crucial component of the electron transport chain. The NDUFAB1 gene is found on the p arm of chromosome 16 at position 12.2, spanning 15,327 base pairs. The protein is 17.4 kDa and consists of 156 amino acids. NDUFAB1 is one of the approximately 31 hydrophobic subunits that form 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. NDUFAB1 is not believed to be involved in catalysis, but its hydrophobic domain anchors the NADH dehydrogenase (ubiquinone) complex to the inner mitochondrial membrane. The NDUFAB1 protein contributes to the transfer of electrons from NADH to ubiquinone, playing a role in cellular respiration.

NDUFAB1 plays a role in fatty acid biosynthesis, serving as a carrier for the growing fatty acid chain. It also functions as an accessory subunit in Complex I of the mitochondrial respiratory chain, facilitating the transfer of electrons from NADH to the respiratory chain. Additionally, NDUFAB1 is an accessory protein in the core iron-sulfur cluster (ISC) assembly complex, where it regulates the stability and cysteine desulfurase activity of NFS1 in conjunction with LYRM4. This complex participates in the assembly of [2Fe-2S] clusters onto the scaffolding protein ISCU. The ISC assembly complex is responsible for the de novo synthesis of [2Fe-2S] clusters, the initial step in mitochondrial iron-sulfur protein biogenesis. This process involves the cysteine desulfurase complex (NFS1:LYRM4:NDUFAB1) producing persulfide, which is delivered to the ISCU scaffold in a FXN-dependent manner. The complex is then stabilized by FDX2, which supplies reducing equivalents to facilitate the assembly of [2Fe-2S] clusters. Ultimately, the [2Fe-2S] clusters are transferred from ISCU to chaperone proteins, including HSCB, HSPA9, and GLRX5.

NDUFAB1 is also known as ACP, ACP1, FASN2A, SDAP.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing