NDUFB11 Antibody

1. 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. PMID: 27488349
2. 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. PMID: 27102574
3. The novel NDUFB11 mutation may cause a complex 1 deficiency in synergy with additional unknown mtDNA variants. PMID: 25921236
4. Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome. PMID: 25772934
5. the post-transcriptional regulation of the Ndufb11 gene can be involved in the programmed cell death process PMID: 23246602
6. 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. PMID: 17292333

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HGNC: 20372

OMIM: 252010

KEGG: hsa:54539

UniGene: Hs.521969