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Results for the Protein: P40939
20141376

ECHA_HUMAN RecName: Full=Trifunctional enzyme subunit alpha, mitochondrial; AltName: Full=78 kDa gastrin-binding protein; AltName: Full=TP-alpha; Includes: RecName: Full=Long-chain enoyl-CoA hydratase; Includes: RecName: Full=Long chain 3-hydroxyacyl-CoA dehydrogenase; Flags: Precursor

Known Diseases associated with this Protein:
  LCHAD DEFICIENCY
  LCHAD DEFICIENCY WITH MATERNAL ACUTE FATTY LIVER OF PREGNANCY, INCLUDED
  LONG-CHAIN 3-HYDROXYL-COA DEHYDROGENASE DEFICIENCY (LCHAD DEFICIENCY)
  MATERNAL ACUTE FATTY LIVER OF PREGNANCY (AFLP)
  TRIFUNCTIONAL PROTEIN DEFICIENCY
  TRIFUNCTIONAL PROTEIN DEFICIENCY (TFP DEFICIENCY)
  TRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY
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Default View:

CaiD - COG1024
crotonase-like - cd06558
ECH - pfam00378
FadB - COG1250
3HCDH_N - pfam02737
3HCDH - pfam00725


Swiss-Prot Protein: P40939
Identical to: NP_000173
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
crotonase-likecd065584.2e-7241251
FadBCOG12506e-119359701
ECHpfam003787e-9350223
3HCDH_Npfam027374.2e-72363542
3HCDHpfam007251.1e-40544639

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2229420 Polymorphismp.GLN358LYSN/A
Swiss-ProtVAR_002273Diseasep.GLU510GLNMaternal acute fatty liver of pregnancy (AFLP)
Swiss-ProtVAR_021126Diseasep.ILE305ASNTrifunctional protein deficiency (TFP deficiency)
Swiss-ProtVAR_021127Diseasep.LEU342PROLong-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency)
Swiss-ProtVAR_021125Diseasep.VAL282ASPTrifunctional protein deficiency (TFP deficiency)
OMIM600890.0010 Diseasep.ARG255TERTRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY
OMIM600890.0005 Diseasep.ARG524TERTRIFUNCTIONAL PROTEIN DEFICIENCY
OMIM600890.0002 Diseasep.GLN342TERLCHAD DEFICIENCY
OMIM600890.0001 Diseasep.GLU510GLNLCHAD DEFICIENCY||LCHAD DEFICIENCY WITH MATERNAL ACUTE FATTY LIVER OF PREGNANCY, INCLUDED
OMIM600890.0009 Diseasep.ILE269ASNTRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY
OMIM600890.0007 Diseasep.LEU342PROLCHAD DEFICIENCY
OMIM600890.0008 Diseasep.VAL246ASPTRIFUNCTIONAL PROTEIN DEFICIENCY WITH MYOPATHY AND NEUROPATHY



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