NDUFB11
Description
The NDUFB11 (NADH:ubiquinone oxidoreductase subunit B11) is a protein-coding gene located on chromosome X.
NDUFB11, the gene encoding NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial (NADH-ubiquinone oxidoreductase ESSS subunit), is located on the p arm of chromosome X in position 11.23 and spans 2,994 base pairs. The encoded protein, weighing 17 kDa and composed of 153 amino acids, is a subunit of the NADH dehydrogenase (ubiquinone) complex, the largest of the respiratory complexes. Its structure features an L-shape with a long, hydrophobic transmembrane domain and a hydrophilic domain for the peripheral arm. The hydrophobic domain acts as an anchor for the NADH dehydrogenase (ubiquinone) complex at the inner mitochondrial membrane. Mutations in NDUFB11 have been linked to linear skin defects with multiple congenital anomalies 3 and mitochondrial complex I deficiency.
NDUFB11 is also known as CI-ESSS, ESSS, MC1DN30, NP17.3, Np15, P17.3.
Associated Diseases
- Linear skin defects with multiple congenital anomalies 3
- Microphthalmia with linear skin defects syndrome
- Linear skin defects with multiple congenital anomalies 1
- Isolated complex I deficiency
- Mitochondrial complex I deficiency, nuclear type 30
