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- SignalChem|生产厂家|价格信息
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Overview:
PDHA1pyruvatedehydrogenase(lipoamide)alpha1isamemberofthepyruvatedehydrogenase(PDH)complex.PDHA1isanuclear-encodedmitochondrialmultienzymecomplexwhichcatalyzestheoverallconversionofpyruvatetoacetyl-CoAandCO(2),andprovidestheprimarylinkbetweenglycolysisandthetricarboxylicacid(TCA)cycle.PDHA1playsacriticalroleinthebrainthatusuallyobtainsallofitsenergyfromtheaerobicoxidationofglucose(1).MutationsinthePDHA1areassociatedwithpyruvatedehydrogenaseE1-alphadeficiencyandX-linkedLeighsyndrome(2).
GeneAliases:
PDHA;PDHCE1A;PHE1A
GenbankNumber:
NM_000284
References:
1.Brown,G.K.et.al:Pyruvatedehydrogenasedeficiency.J.Med.Genet.31:875-879,1994.2.Chun,K.et.al:MutationsintheX-linkedE1-alphasubunitofpyruvatedehydrogenaseleADIngtodeficiencyofthepyruvatedehydrogenasecomplex.Hum.Molec.Genet.2:449-454,1993.


