Antibody Name:	Anti-HADHA Antibody [KO Validated]
Antibody SKU:	CAB5346
Antibody Size:	20uL, 50uL, 100uL
Application:	WB IF IP
Reactivity:	Human, Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 484-763 of human HADHA (NP_000173.2).

Application:	WB IF IP
Recommended Dilution:	WB 1:500 - 1:2000 IF 1:50 - 1:200 IP 1:50 - 1:100
Reactivity:	Human, Mouse, Rat
Positive Samples:	K-562, THP-1, SW480, PC-3, HeLa, Mouse intestine, Mouse heart, Mouse adipose

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 484-763 of human HADHA (NP_000173.2).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	IAAV SKRP EKVI GMHY FSPV DKMQ LLEI ITTE KTSK DTSA SAVA VGLK QGKV IIVV KDGP GFYT TRCL APMM SEVI RILQ EGVD PKKL DSLT TSFG FPVG AATL VDEV GVDV AKHV AEDL GKVF GERF GGGN PELL TQMV SKGF LGRK SGKG FYIY QEGV KRKD LNSD MDSI LASL KLPP KSEV SSDE DIQF RLVT RFVN EAVM CLQE GILA TPAE GDIG AVFG LGFP PCLG GPFR FVDL YGAQ KIVD RLKK YEAA YGKQ FTPC QLLA DHAN SPNK KFYQ
Gene ID:	3030
Uniprot:	P40939
Cellular Location:	Mitochondrion
Calculated MW:	28kDa/83kDa
Observed MW:	82kDa

Synonyms:

HADHA, ECHA, GBP, HADH, LCEH, LCHAD, MTPA, TP-ALPHA

Background:

This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation.

UniProt Protein Function:	HADHA: Bifunctional subunit. Defects in HADHA are a cause of trifunctional protein deficiency (TFP deficiency). 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). 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). 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).
UniProt Protein Details:	Protein type:Amino Acid Metabolism - lysine degradation; Mitochondrial; Acetyltransferase; Carbohydrate Metabolism - propanoate; Amino Acid Metabolism - tryptophan; Lipid Metabolism - unsaturated fatty acid biosynthesis; Lipid Metabolism - fatty acid; Lipid Metabolism - fatty acid elongation in mitochondria; Other Amino Acids Metabolism - beta-alanine; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Lyase; EC 1.1.1.211; EC 4.2.1.17; Oxidoreductase; Carbohydrate Metabolism - butanoate; Secondary Metabolites Metabolism - limonene and pinene degradation Chromosomal Location of Human Ortholog: 2p23 Cellular Component: mitochondrion; mitochondrial inner membrane; fatty acid beta-oxidation multienzyme complex Molecular Function:protein binding; acetyl-CoA C-acetyltransferase activity; acyl-CoA binding; enoyl-CoA hydratase activity; long-chain-3-hydroxyacyl-CoA dehydrogenase activity; protein complex binding; long-chain-enoyl-CoA hydratase activity; NAD binding; 3-hydroxyacyl-CoA dehydrogenase activity Biological Process: response to drug; fatty acid beta-oxidation; phospholipid metabolic process; glycerophospholipid biosynthetic process; cellular lipid metabolic process; response to insulin stimulus Disease: Trifunctional Protein Deficiency; Long-chain 3-hydroxyacyl-coa Dehydrogenase Deficiency
NCBI Summary:	This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008]
UniProt Code:	P40939
NCBI GenInfo Identifier:	20141376
NCBI Gene ID:	3030
NCBI Accession:	P40939.2
UniProt Secondary Accession:	P40939,Q16679, Q53T69, Q53TA2, Q96GT7, Q9UQC5, B2R7L4 B4DYP2,
UniProt Related Accession:	P40939
Molecular Weight:	763
NCBI Full Name:	Trifunctional enzyme subunit alpha, mitochondrial
NCBI Synonym Full Names:	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
NCBI Official Symbol:	HADHA
NCBI Official Synonym Symbols:	GBP; ECHA; HADH; LCEH; MTPA; LCHAD; TP-ALPHA
NCBI Protein Information:	trifunctional enzyme subunit alpha, mitochondrial; 3-oxoacyl-CoA thiolase; gastrin-binding protein; 78 kDa gastrin-binding protein; long-chain 2-enoyl-CoA hydratase; long-chain-3-hydroxyacyl-CoA dehydrogenase; mitochondrial trifunctional enzyme, alpha subunit; mitochondrial trifunctional protein, alpha subunit; 3-ketoacyl-Coenzyme A (CoA) thiolase, alpha subunit; mitochondrial long-chain 2-enoyl-Coenzyme A (CoA) hydratase, alpha subunit; mitochondrial long-chain L-3-hydroxyacyl-Coenzyme A (CoA) dehydrogenase, alpha subunit; hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit
UniProt Protein Name:	Trifunctional enzyme subunit alpha, mitochondrial
UniProt Synonym Protein Names:	78 kDa gastrin-binding protein; TP-alphaIncluding the following 2 domains:Long-chain enoyl-CoA hydratase (EC:4.2.1.17); Long chain 3-hydroxyacyl-CoA dehydrogenase (EC:1.1.1.211)
Protein Family:	Trifunctional enzyme
UniProt Gene Name:	HADHA
UniProt Entry Name:	ECHA_HUMAN

	Western blot analysis of extracts of various cell lines, using HADHA antibody (CAB5346) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 3s.
	Western blot analysis of extracts from normal (control) and HADHA knockout (KO) 293T cells, using HADHA antibody (CAB5346) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 1s.
	Immunofluorescence analysis of U2OS cells using HADHA antibody (CAB5346). Blue: DAPI for nuclear staining.
	Immunoprecipitation analysis of 200ug extracts of HeLa cells using 3ug HADHA antibody (CAB5346). Western blot was performed from the immunoprecipitate using HADHA antibody (CAB5346) at a dilition of 1:1000.