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NDUFB11 is a component of mitochondrial complex I.
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recurring mutation, c.276_278del, p.F93del, in NDUFB11, a mitochondrial respiratory complex I-associated protein encoded on the X chromosome, in 5 males with a variably syndromic, normocytic congenital sideroblastic anemia.
This is the third report that describes a mutation in NDUFB11, but all are associated with a different phenotype. Our results further expand the molecular spectrum and associated clinical phenotype of NDUFB11 defects.
The novel NDUFB11 mutation may cause a complex 1 deficiency in synergy with additional unknown mtDNA variants.
Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.
the post-transcriptional regulation of the Ndufb11 gene can be involved in the programmed cell death process
NDUFB11 did not seem to influence risk and age at onset of visual loss in a total of 65 individuals from 35 Italian Leber hereditary optic neuropathy patients.
Study shows that the expression of Ndufb11, a gene encoding the mitochondrial protein (Montrer COX6B2 Anticorps) NP15.6 is decreased in the course of neuronal differentiation.
Subunit ESSS has no known role in assembly into complex I of hydrophobic subunits encoded in the mitochondrial genome
NDUFB11 is a component of mitochondrial complex I. Complex I catalyzes the first step in the electron transport chain, the transfer of 2 electrons from NADH to ubiquinone, coupled to the translocation of 4 protons across the membrane (Carroll et al., 2002
NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial
, NADH-ubiquinone oxidoreductase ESSS subunit
, complex I NP17.3 subunit
, complex I-ESSS
, neuronal protein 17.3
, neuronal protein 15.6
, nuclear protein 15.6
, mitochondrial NADH:ubiquinone oxidoreductase ESSS subunit
, Complex I-ESSS
, mitochondrial NADH-ubiquinone oxidoreductase ESSS subunit
, mitochondrial NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11
, NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11