Property Summary

NCBI Gene PubMed Count 20
Grant Count 33
R01 Count 25
Funding $3,791,103.75
PubMed Score 109.88
PubTator Score 25.35

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
Multiple myeloma 1.248 0.000
diabetes mellitus -1.400 0.007
Pneumonia -1.900 0.000

Gene RIF (10)

PMID Text
23791750 Fanconi anemia complementation group A mutants show defective respiration through Complex I, diminished ATP production and metabolic sufferance with an increased AMP/ATP ratio.
21596602 Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency
20153825 Mutations in the NDUFA1 gene is linked to a delayed mitochondrial network recovery in OXPHOS disorders.
19343046 Observational study of gene-disease association. (HuGE Navigator)
19185523 hypothesize that the novel G32R mutation in NDUFA1 is causing complex I deficiency either by itself or in synergy with additional mtDNA variants
17262856 Two novel p.Gly8Arg and p.Arg37Ser hemizygous mutations in NDUFA1 were identified in two unrelated male patients presenting with Leigh's syndrome and with myoclonic epilepsy and developmental delay.
15854127 Suppression of NDUFA1 expression could represent a key pathogenic mechanism in the development of basal cell carcinoma
15038604 Oxidative stress and partial deficiencies of mitochondrial complex I are key factors in the pathogenesis of Parkinson's disease. (REVIEW)
12084895 A family-based association study finds that the NDUFA1 gene is unlikely to harbor a major visual loss susceptibility locus for Leber hereditary optic neuropathy.
11937507 Species-specific and mutant MWFE proteins effect on the assembly of a functional mammalian mitochondrial complex I.

AA Sequence

MWFEILPGLSVMGVCLLIPGLATAYIHRFTNGGKEKRVAHFGYHWSLMERDRRISGVDRYYVSKGLENID      1 - 70
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Text Mined References (20)

PMID Year Title
23791750 2013 Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A.
21596602 2011 Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.
20153825 2010 Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.
19343046 2009 Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
19185523 2009 A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease.
17262856 2007 X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.
17209039 2007 Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16729965 2006 Novel localization of OCTN1, an organic cation/carnitine transporter, to mammalian mitochondria.
15854127 2005 Downregulation of NDUFA1 and other oxidative phosphorylation-related genes is a consistent feature of basal cell carcinoma.
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