NDUFB11 gene

NADH:ubiquinone oxidoreductase subunit B11

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to ubiquinone. Mutations in the human gene are associated with linear skin defects with multiple congenital anomalies 3 and mitochondrial complex I deficiency. [provided by RefSeq, Dec 2016]

From UniProt:

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone.

From NCBI Gene:

  • Linear skin defects with multiple congenital anomalies 3

From UniProt:

Linear skin defects with multiple congenital anomalies 3 (LSDMCA3): A disorder characterized by dermal, ocular, neurological and cardiac abnormalities. LSDMCA3 clinical features include linear skin defects on face and neck at birth, lacrimal duct atresia, myopia, nystagmus, strabismus, cardiomyopathy, axial hypotonia, seizures, corpus callosum agenesis, and dilation of lateral ventricles. [MIM:300952]

Defects in QRSL1 may play a role in mitochondrial disorders characterized by respiratory chain complex I deficiency.

Cytogenetic Location: Xp11.3, which is the short (p) arm of the X chromosome at position 11.3

Molecular Location: base pairs 47,142,216 to 47,145,210 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xp11.3, which is the short (p) arm of the X chromosome at position 11.3
  • CI-ESSS
  • ESSS
  • Np15
  • NP17.3
  • P17.3