HADHA Gene
protein-coding GIFtS: 64
GCID: GC02M026413
|
|
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA...(Previous names: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme...)
| |
Aliases
for HADHA gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase(Trifunctional Protein), Alpha Subunit1 2 | | TP-ALPHA2 | | MTPA1 2 5 | | Gastrin-Binding Protein2 | | GBP1 2 | | Long-Chain 2-Enoyl-CoA Hydratase2 | | LCEH1 2 | | Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase2 | | LCHAD1 2 | | Mitochondrial Long-Chain 2-Enoyl-Coenzyme A (CoA) Hydratase, Alpha Subunit2 | | Hydroxyacyl-Coenzyme A Dehydrogenase/3-Ketoacyl-Coenzyme AThiolase/Enoyl-Coenzyme A Hydratase (Trifunctional Protein), Alpha Subunit1 2 | | Mitochondrial Long-Chain L-3-Hydroxyacyl-Coenzyme A (CoA) Dehydrogenase, AlphaSubunit2 | | 78 KDa Gastrin-Binding Protein2 3 | | Mitochondrial Trifunctional Enzyme, Alpha Subunit2 | | HADH2 3 | | Mitochondrial Trifunctional Protein, Alpha Subunit2 | | 3-Ketoacyl-Coenzyme A (CoA) Thiolase, Alpha Subunit2 | | Trifunctional Enzyme Subunit Alpha, Mitochondrial2 | | 3-Oxoacyl-CoA Thiolase2 | | TP-Alpha1 | | ECHA2 | | |
Export aliases for HADHA gene to outside databasesPrevious GC identifers: GC02M026334 GC02M026506 GC02M026388 GC02M026325 GC02M026267 GC02M026150 |
Summaries
for HADHA gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for HADHA:
This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps ofmitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed offour alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoAhydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genesof the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in thehuman genome in a head-to-head orientation. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: ECHA_HUMAN, P40939Function: Bifunctional subunit
|
Genomic Views
for HADHA gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_022184.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the HADHA gene promoter:
GR AML1a STAT5A GATA-2 Egr-4 HNF-1A POU2F1 POU2F1a HNF-1 GR-alpha
Other transcription factors
Search SABiosciences Chromatin IP Primers for HADHA
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HADHA |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2p23 Ensembl cytogenetic band: 2p23.3 HGNC cytogenetic band: 2p23HADHA Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02M026413: view genomic region
(about GC identifiers)
Start:
|
26,413,504 bp from pter |
End:
|
26,467,594 bp from pter |
Size:
|
54,091 bases |
Orientation:
|
minus strand |
|
Proteins
for HADHA gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ECHA_HUMAN, P40939 (See
protein sequence)Recommended Name: Trifunctional enzyme subunit alpha, mitochondrial precursor Size: 763 amino acids; 83000 Da
Subunit: Octamer of 4 alpha (HADHA) and 4 beta (HADHB) subunits
Subcellular location: Mitochondrion
Secondary accessions: B2R7L4 Q16679 Q96GT7Explore the universe of human proteins at neXtProt for HADHA: NX_P40939
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P40939
HADHA Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000173.2
ENSEMBL proteins: ENSP00000370023 ENSP00000438039 ENSP00000405344 Reactome Protein details: P40939
Human Recombinant Protein Products for HADHA:
Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table
HADHA for ontologies About GeneDecksing
HADHA Antibody Products:
Assay Products for HADHA: |
Protein
Domains /
Families
for HADHA gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
HADHA for domains About GeneDecksing
5/9 InterPro domains/families (see all 9):Graphical View of Domain Structure for InterPro Entry P40939ProtoNet protein and cluster: P40939 3 Blocks protein families: IPB001753 Enoyl-CoA hydratase/isomerase IPB006176 3-hydroxyacyl-CoA dehydrogenase IPB006180 3-hydroxyacyl-CoA dehydrogenase
UniProtKB/Swiss-Prot: ECHA_HUMAN, P40939Similarity: In the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase familySimilarity: In the central section; belongs to the 3-hydroxyacyl-CoA dehydrogenase family |
Function
for HADHA gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: ECHA_HUMAN, P40939Function: Bifunctional subunitCatalytic activity: (3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl-CoA + H(2)OCatalytic activity: A long-chain (S)-3-hydroxyacyl-CoA + NAD(+) = a long-chain 3-oxoacyl-CoA + NADH Genatlas biochemistry entry for HADHA:mitochondrial,membrane bound,fatty acid beta-oxidation trifunctional enzyme,alpha subunit harboring the long chain2-enoyl-CoA hydratase and the long chain 3-hydroxyacyl-CoA dehydrogenase domains,linked to HADHB in head to headarrangement on opposite strand with a common 350bp flanking region
Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13): About this table
HADHA for ontologies About GeneDecksing
Phenotypes:
1 GenomeRNAi human phenotype for HADHA:
8 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Hadha):
HADHA for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Hadhatm1Jib for HADHA
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HADHA (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HADHA
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: HADHA (NM_000182) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HADHA | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HADHA |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HADHA |
|
Pathways & Interactions
for HADHA gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/14 super-pathways (see all 14) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA | | | 2 | Branched-chain amino acid catabolism | | | 3 | Metabolism | | | 4 | Fatty Acid Beta Oxidation | | | 5 | Glycerophospholipid biosynthesis | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/6  BioSystems Pathways for HADHA (see all 6)
5/17 
Reactome Pathways for HADHA (see all 17)
5/10 
Kegg Pathways (Kegg details for HADHA) (see all 10):
UniProtKB/Swiss-Prot: ECHA_HUMAN, P40939Pathway: Lipid metabolism; fatty acid beta-oxidation
HADHA for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HADHA
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/404 Interacting proteins for HADHA (P409391, 2, 3 ENSP000003700234) via UniProtKB, MINT, STRING, and/or I2D (see all 404)
About this table
Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006631 | fatty acid metabolic process |
-- | -- | | GO:0006635 | fatty acid beta-oxidation |
TAS | -- | | GO:0006644 | phospholipid metabolic process |
TAS | -- | | GO:0032868 | response to insulin stimulus |
IEA | -- | | GO:0035965 | cardiolipin acyl-chain remodeling |
TAS | -- |
HADHA for ontologies About GeneDecksing
|
Drugs & Compounds
for HADHA gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
HADHA for compounds About GeneDecksing
 Browse Tocris compounds for HADHA
10/71 HMDB Compounds for HADHA (see all 71) About this table
1 DrugBank Compound for HADHA About this table
10/44 Novoseek chemical compound relationships for HADHA gene (see all 44) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| i-bop |
82.3 |
3 |
11055976 (3) |
| 3-ketopalmitoyl-coa |
82.2 |
1 |
7936829 (1) |
| 17-phenyl-trinor-pge2 |
78.7 |
5 |
11015313 (3), 15100160 (1) |
| thromboxane a2 |
78.5 |
27 |
17630727 (2), 11901221 (2), 10506165 (2), 10827090 (1) (see all 18) |
| gastrin 17 |
77.6 |
3 |
7851540 (2) |
| benzotript |
77.1 |
1 |
7851540 (1) |
| fatty acid |
75.7 |
50 |
15858960 (3), 10682306 (2), 7811722 (1), 12487544 (1) (see all 34) |
| 3-oxoacyl-coa |
73.6 |
5 |
1401059 (2), 1445348 (1), 1438378 (1) |
| acyl-coa |
73.1 |
28 |
7822275 (1), 12487544 (1), 16617370 (1), 9762600 (1) (see all 14) |
| 3-hydroxydecanoic acid |
72.2 |
3 |
20399795 (1), 20381565 (1) |
Search CenterWatch for drugs/clinical trials and news about HADHA / ECHA
|
Transcripts
for HADHA gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for HADHA gene: NM_000182.4 Unigene Cluster for HADHA: Hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit Hs.516032 [show with all ESTs]Unigene Representative Sequence: NM_0001825 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000380649(uc002rgy.3 uc010yks.2) ENST00000492433 ENST00000471743
ENST00000461025 ENST00000457468(uc010ykt.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HADHA (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HADHA
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: HADHA (NM_000182) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HADHA | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HADHA |
Additional cDNA sequence: AK124989.1 AK293398.1 AK299258.1 AK302532.1 AK313027.1 BC009235.2 D16480.1 FJ626228.1 GU727642.1 U04627.1 24/46 DOTS entries (see all 46): DT.100736320 DT.120986734 DT.100736337 DT.451939 DT.91881656 DT.100736359 DT.100736304 DT.120986853 DT.100704840 DT.120987067 DT.91714501 DT.120986828 DT.99926546 DT.100736334 DT.121176814 DT.120986780 DT.408288 DT.100746276 DT.100802728 DT.91684649 DT.120986758 DT.91921667 DT.91782316 DT.102839310 24/1063 AceView cDNA sequences (see all 1063): CB152910 BE561174 BQ431778 BU193422 AL542066 CR626125 BM128685 BX406264 AA386372 BQ891909 AW173035 AU141056 BI916646 BE261637 BM800210 BG756727 AW239344 BF432396 NM_000182 AA062818 BM724949 BQ688160 AA418738 BM471741
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for HADHA About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21a | · | 21b |
|---|
|
| SP1: | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for HADHA
|
Expression
for HADHA gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| HADHA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCTCGCTCAG
About this image
See HADHA Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HADHA
SOURCE GeneReport for Unigene cluster: Hs.516032
SABiosciences Expression via Pathway-Focused PCR Arrays including HADHA:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HADHA
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HADHA | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HADHA | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HADHA | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HADHA |
Orthologs
for HADHA gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for HADHA gene from 9/28 species (see all 28) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
HADHA1 |
hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA more |
74.81(n)
79.35(a) |
|
395929 NM_205056.1 NP_990387.1 |
lizard
(Anolis carolinensis) |
Reptilia |
HADHA6 |
-- |
78(a) |
1 ↔ 1 |
GL344254.1(33685-67234) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.255522 |
Xenopus laevis transcribed sequence with moderate similarity more |
74.94(n) |
|
BX845168.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
CA473355.12 |
-- |
77.48(n) |
|
CA473355.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
BcDNA:GH125583
CG43891 |
long-chain enoyl-CoA hydratase3
CG43891 |
56(a)3
58.46(n)1
57.28(a)1 |
|
30B123
342761 NM_135455.21 NP_609299.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
T08B2.7a3
T08B2.71 |
3-hydroxyacyl-CoA dehydrogenase3
Protein T08B2.71 |
53(a)
(best of 5)3
56.83(n)1
54.1(a)1 |
|
I(6215273-6219172)3
1723101 NM_059388.51 NP_491789.11 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AIM11 |
enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase |
46.13(n)
35.01(a) |
|
829022 NM_119045.4 NP_194630.1 |
rice
(Oryza sativa) |
Liliopsida |
Os02g02741001 |
hypothetical protein |
45.02(n)
34.78(a) |
|
4328997 NM_001053071.1 NP_001046536.1 |
E. coli
(Escherichia coli) |
Gamma proteobacteria |
fadJ6 |
fused enoyl-CoA hydratase and epimerase and isomer... |
40(a) |
1 ↔ 1 |
Chromosome(2455037-2457181) |
ENSEMBL Gene Tree for HADHA (if available)
TreeFam Gene Tree for HADHA (if available) |
Paralogs
for HADHA gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for HADHA gene
- ECHDC22 EHHADH2 AUH2 ECH12 ECHDC32 ECHS12 HADH2 ECHDC12
2 SIMAP similar genes for HADHA using alignment to 6 protein entries: ECHA_HUMAN (see all proteins):ECHDC2 EHHADH
HADHA for paralogs About GeneDecksing
2 Pseudogenes.org Pseudogenes for HADHA
PGOHUM00000239651 PGOHUM00000245761
|
Genomic Variants
for HADHA gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 2 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for HADHA (26413504 - 26467594 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for HADHA
1 CNV: 7261
Human Gene Mutation Database (HGMD): HADHA
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HADHA |
|
Disorders
/ Diseases
for HADHA gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
HADHA for disorders About GeneDecksing
OMIM gene information: 600890
OMIM disorders: 609016 609015
UniProtKB/Swiss-Prot: ECHA_HUMAN, P40939
Defects in HADHA are a cause of trifunctional protein deficiency (TFP deficiency) [MIM:609015]. The clinicalmanifestations are very variable and include hypoglycemia, cardiomyopathy and sudden death. Phenotypes with mainlyhepatic and neuromyopathic involvement can also be distinguished. Biochemically, TFP deficiency is defined by the lossof 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 ischaracterized by reduced long-chain 3-hydroxyl-CoA dehydrogenase activity, while the other enzyme activities of theTFP 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 severematernal illness occurring during pregnancies with affected fetuses. This disease is associated with LCHAD deficiencyand characterized by sudden unexplained infant death or hypoglycemia and abnormal liver enzymes (Reye-like syndrome)
20/56  diseases for HADHA (see all 56): About MalaCardstrifunctional protein deficiency 3-hydroxyacyl-coenzyme a dehydrogenase deficiency lchad deficiency 3-hydroxyacyl-coa dehydrogenase deficiency
acyl-coa dehydrogenase bannayan-riley-ruvalcaba syndrome maple syrup urine disease hellp syndrome, maternal, of pregnancy
sudden infant death syndrome mitochondrial trifunctional protein deficiency protein s deficiency fatty acid oxidation disorders
hellp syndrome developmental disabilities pre-eclampsia ruvalcaba syndrome
acute fatty liver of pregnancy acute myocardial infarction adrenal hyperplasia thiolase deficiency
10/36 Novoseek disease relationships for HADHA gene (see all 36) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| reye-like syndrome |
86.8 |
5 |
7846063 (1), 10518281 (1), 8809345 (1) |
| protein deficiency |
83.9 |
9 |
12487544 (1), 16040264 (1), 17143551 (1), 16297647 (1) (see all 7) |
| abetalipoproteinemia |
82.9 |
16 |
20381565 (3), 16423905 (2), 15896654 (2), 19880769 (1) (see all 9) |
| hellp syndrome |
74.7 |
16 |
10926288 (5), 17313315 (1), 15858960 (1), 8827903 (1) (see all 9) |
| fatty liver |
72.8 |
16 |
7846063 (2), 18408953 (2), 8777838 (1), 10352164 (1) (see all 11) |
| mcad deficiency |
72.3 |
3 |
12487544 (1), 19255872 (1) |
| cardiomyopathy |
67.4 |
9 |
17143551 (1), 12971423 (1), 10518281 (1), 16163656 (1) (see all 7) |
| hypoglycemia |
66.7 |
11 |
7846063 (1), 17143551 (1), 10638050 (1), 10352164 (1) (see all 9) |
| metabolic disorder |
57.8 |
6 |
12487544 (1), 10229030 (1), 18162058 (1), 10789927 (1) |
| pregnancy complications |
55.7 |
6 |
20363656 (2), 10229030 (1), 15858960 (1), 11295727 (1) (see all 5) |
Genetic Association Database (GAD): HADHA
Human Genome Epidemiology (HuGE) Navigator: HADHA (13 documents)
Export disorders for HADHA gene to outside databases
|
Publications
for HADHA gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for HADHA gene, integrated from 9 sources (see all 246):
(articles sorted by number of sources associating them with HADHA) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Structures of the human cDNA and gene encoding the 78 kDa gastrin- binding protein and of a related pseudogene. (PubMed id 7918661)1, 2, 3, 9 Zhang Q.X. and Baldwin G.S. (1994)
- Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. (PubMed id 8770876)1, 2, 9 Ijlst L.... Wanders R.J.A. (1996)
- The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. (PubMed id 7846063)1, 2, 9 Sims H.F.... Strauss A.W. (1995)
- Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein. (PubMed id 7811722)1, 2, 9 Ijlst L.... Hashimoto T. (1994)
- Fluorescence in situ hybridization mapping of the alpha and beta subunits (HADHA and HADHB) of human mitochondrial fatty acid beta-oxidation multienzyme complex to 2p23 and their evolution. (PubMed id 9605857)1, 3, 9 Aoyama T....Fukushima Y. (1997)
- Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients. (PubMed id 8163672)1, 2, 9 Kamijo T....Hashimoto T. (1994)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Prospective screening for pediatric mitochondrial trifunctional protein defects in pregnancies complicated by liver disease. (PubMed id 12413376)1, 4 Yang Z....Ibdah J.A. (2002)
- Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation. (PubMed id 9739053)1, 2 Ibdah J.A.... Strauss A.W. (1998)
- Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations. (PubMed id 9266371)1, 2 Ijlst L.... Wanders R.J.A. (1997)
|
External Searches for HADHA gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing HADHA gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing HADHA gene
(According to HUGE)
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| -- |
Specialized Databases showing HADHA gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for HADHA | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HADHA |
|
| | |
About This Section
| Patent Information for HADHA gene:
Search GeneIP for patents involving HADHA
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for HADHA gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
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| | |  | Browse OriGene Antibodies | | Browse OriGene shRNA RFPs | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HADHA | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HADHA | | | OriGene Protein Over-expression Lysate for HADHA | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for HADHA | | OriGene 3'-UTR Clone for HADHA | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HADHA | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HADHA | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HADHA |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HADHA |
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