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Literature summary for 3.4.21.105 extracted from

  • Curran, J.E.; Jowett, J.B.; Abraham, L.J.; Diepeveen, L.A.; Elliott, K.S.; Dyer, T.D.; Kerr-Bayles, L.J.; Johnson, M.P.; Comuzzie, A.G.; Moses, E.K.; Walder, K.R.; Collier, G.R.; Blangero, J.; Kissebah, A.H.
    Genetic variation in PARL influences mitochondrial content (2010), Hum. Genet., 127, 183-190.
    View publication on PubMedView publication on EuropePMC
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Organism

Organism UniProt Comment Textmining
Homo sapiens
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-
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Synonyms

Synonyms Comment Organism
PARL
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 Homo sapiens

General Information

General Information Comment Organism
physiological function 16 SNPs are identified in 1086 Caucasian individuals. Statistical genetic analysis reveal that one promoter variant, T-191C, exhibit significant effects on mitochondrial content levels. Comparison of the transcription factor binding characteristics of the T-191C promoter SNP by EMSA indicates preferential binding of nuclear factors to the T allele, suggesting functional variation in PARL expression Homo sapiens