Recombinant Human HADHA protein (ab158631)
Key features and details
- Expression system: Wheat germ
- Tags: GST tag N-Terminus
- Suitable for: WB, ELISA
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Product name
Recombinant Human HADHA protein -
Expression system
Wheat germ -
Protein length
Full length protein -
Animal free
No -
Nature
Recombinant -
-
Species
Human -
Sequence
MVACRAIGILSRFSAFRILRSRGYICRNFTGSSALLTRTHINYGVKGDVA VVRINSPNSKVNTLSKELHSEFSEVMNEIWASDQIRSAVLISSKPGCFIA GADINMLAACKTLQEVTQLSQEAQRIVEKLEKSTKPIVAAINGSCLGGGL EVAISCQYRIATKDRKTVLGTPEVLLGALPGAGGTQRLPKMVGVPAALDM MLTGRSIRADRAKKMGLVDQLVEPLGPGLKPPEERTIEYLEEVAITFAKG LADKKISPKRDKGLVEKLTAYAMTIPFVRQQVYKKVEEKVRKQTKGLYPA PLKIIDVVKTGIEQGSDAGYLCESQKFGELVMTKESKALMGLYHGQVLCK KNKFGAPQKDVKHLAILGAGLMGAGIAQVSVDKGLKTILKDATLTALDRG QQQVFKGLNDKVKKKALTSFERDSIFSNLTGQLDYQGFEKADMVIEAVFE DLSLKHRVLKEVEAVIPDHCIFASNTSALPISEIAAVSKRPEKVIGMHYF SPVDKMQLLEIITTEKTSKDTSASAVAVGLKQGKVIIVVKDGPGFYTTRC LAPMMSEVIRILQEGVDPKKLDSLTTSFGFPVGAATLVDEVGVDVAKHVA EDLGKVFGERFGGGNPELLTQMVSKGFLGRKSGKGFYIYQEGVKRKDLNS DMDSILASLKLPPKSEVSSDEDIQFRLVTRFVNEAVMCLQEGILATPAEG DIGAVFGLGFPPCLGGPFRFVDLYGAQKIVDRLKKYEAAYGKQFTPCQLL ADHANSPNKKFYQ -
Amino acids
1 to 763 -
Tags
GST tag N-Terminus
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Preparation and Storage
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Alternative names
- 3 ketoacyl Coenzyme A (CoA) thiolase alpha subunit
- 3 oxoacyl CoA thiolase
- 78 kDa gastrin binding protein
see all -
Function
Bifunctional subunit. -
Pathway
Lipid metabolism; fatty acid beta-oxidation. -
Involvement in disease
Defects in HADHA are a cause of trifunctional protein deficiency (TFP deficiency) [MIM:609015]. The clinical manifestations are very variable and include hypoglycemia, cardiomyopathy and sudden death. Phenotypes with mainly hepatic and neuromyopathic involvement can also be distinguished. Biochemically, TFP deficiency is defined by the loss of all enzyme activities of the TFP complex.
Defects in HADHA are the cause of long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) [MIM:609016]. The clinical features are very similar to TFP deficiency. Biochemically, LCHAD deficiency is characterized by reduced long-chain 3-hydroxyl-CoA dehydrogenase activity, while the other enzyme activities of the TFP complex are normal or only slightly reduced.
Defects in HADHA are a cause of maternal acute fatty liver of pregnancy (AFLP) [MIM:609016]. AFLP is a severe maternal illness occurring during pregnancies with affected fetuses. This disease is associated with LCHAD deficiency and characterized by sudden unexplained infant death or hypoglycemia and abnormal liver enzymes (Reye-like syndrome). -
Sequence similarities
In the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase family.
In the central section; belongs to the 3-hydroxyacyl-CoA dehydrogenase family. -
Cellular localization
Mitochondrion. - Information by UniProt
Images
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SDS-PAGE - Recombinant Human HADHA protein (ab158631)ab158631 on a 12.5% SDS-PAGE stained with Coomassie Blue.
