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HADHB Gene(Protein Coding)

Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase (Trifunctional Protein), Beta Subunit

GCID:
GC02P026243
GIFtS:
56

Aliases for HADHB Gene

Aliases for HADHB Gene

  • Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase (Trifunctional Protein), Beta Subunit 2 3 5
  • Hydroxyacyl-Coenzyme A Dehydrogenase/3-Ketoacyl-Coenzyme A Thiolase/Enoyl-Coenzyme A Hydratase (Trifunctional Protein), Beta Subunit 2 3
  • TP-BETA 3 4
  • 3-Ketoacyl-Coenzyme A (CoA) Thiolase Of Mitochondrial Trifunctional Protein, Beta Subunit 3
  • Mitochondrial Trifunctional Protein, Beta Subunit 2
  • 2-Enoyl-Coenzyme A (CoA) Hydratase, Beta Subunit 3
  • Trifunctional Enzyme Subunit Beta, Mitochondrial 3
  • Acetyl-CoA Acyltransferase 3
  • Beta-Ketothiolase 3
  • EC 2.3.1.16 58
  • EC 2.3.1 58
  • MSTP029 3
  • ECHB 3
  • MTPB 3

External Ids for HADHB Gene

Previous GeneCards Identifiers for HADHB Gene

  • GC02P026389
  • GC02P026560
  • GC02P026442
  • GC02P026379
  • GC02P026321
  • GC02P026466
  • GC02P026213

Summaries for HADHB Gene

Entrez Gene Summary for HADHB Gene

  • This gene encodes the beta 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 beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. 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. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]

GeneCards Summary for HADHB Gene

HADHB (Hydroxyacyl-CoA Dehydrogenase/3-Ketoacyl-CoA Thiolase/Enoyl-CoA Hydratase (Trifunctional Protein), Beta Subunit) is a Protein Coding gene. Diseases associated with HADHB include Trifunctional Protein Deficiency and Peroxisomal Disease. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA. GO annotations related to this gene include poly(A) RNA binding and transferase activity, transferring acyl groups other than amino-acyl groups. An important paralog of this gene is ACAA2.

Gene Wiki entry for HADHB Gene

Additional gene information for HADHB Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HADHB Gene

Genomics for HADHB Gene

Regulatory Elements for HADHB Gene

Enhancers for HADHB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H026298 1.6 FANTOM5 Ensembl ENCODE dbSUPER 21.4 +56.7 56677 3 HDGF TFAP4 IRF2 SAP130 CHD4 MAX DMAP1 BATF KMT2B YY1 HADHB HADHA ADGRF3 DRC1 GAREM2 LOC105374334 GC02M026305
GH02H026292 1.1 Ensembl ENCODE dbSUPER 22.8 +49.7 49681 0 MNT RFX5 GATA3 ZFHX2 EGR1 IKZF1 FOS EGR2 HADHA HADHB ADGRF3 LOC105374334
GH02H026362 1 ENCODE dbSUPER 15.8 +120.3 120274 1 FOXA2 ZNF266 MAX FOSL1 CTBP1 ZNF316 GATA3 HNF4G FOS NFE2 GTF3C2 HADHB CAD LOC105374363 TMEM214 ADGRF3 ASXL2 GTF3C2-AS1 HADHA RPS2P15
GH02H026272 1.5 Ensembl ENCODE dbSUPER 8.9 +31.1 31102 3 PKNOX1 FOXA2 BRCA1 YY1 FOS DEK REST PPARG NFIL3 ATF4 HADHA ASXL2 HADHB GAREM2 LOC105374334
GH02H026143 1.1 Ensembl ENCODE 10.5 -98.7 -98658 1 HDAC1 ELF3 CTCF CHD4 FEZF1 ZNF384 ZIC2 RAD21 CC2D1A SMC3 RNU6-942P KIF3C RAB10 HADHB HADHA GAREM2 LOC391359 SMARCE1P6
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HADHB on UCSC Golden Path with GeneCards custom track

Promoters for HADHB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000114266 1230 3601 HNRNPUL1 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766

Genomic Location for HADHB Gene

Chromosome:
2
Start:
26,243,170 bp from pter
End:
26,290,468 bp from pter
Size:
47,299 bases
Orientation:
Plus strand

Genomic View for HADHB Gene

Genes around HADHB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HADHB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HADHB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HADHB Gene

Proteins for HADHB Gene

  • Protein details for HADHB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55084-ECHB_HUMAN
    Recommended name:
    Trifunctional enzyme subunit beta, mitochondrial
    Protein Accession:
    P55084
    Secondary Accessions:
    • B2RB16
    • B4E2W0
    • O14969
    • Q53TA6
    • Q96C77
    • Q9H3F5
    • Q9T2V8

    Protein attributes for HADHB Gene

    Size:
    474 amino acids
    Molecular mass:
    51294 Da
    Quaternary structure:
    • Octamer of 4 alpha (HADHA) and 4 beta (HADHB) subunits. Interacts with RSAD2/viperin.
    SequenceCaution:
    • Sequence=BAA22061.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for HADHB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HADHB Gene

Selected DME Specific Peptides for HADHB Gene

P55084:
  • AGLTMNDID
  • DNGIRPSSL
  • YALRSHSLAKKAQDEG
  • FEFHEAFSGQILAN
  • GLLHRTSVPK
  • DGASAML
  • RPLSCSSQ
  • ALAMGYKPKAYLRDF
  • APAVQTK
  • WGGSLSLGHPFGATGCRLVMAAANRLRK
  • LTDGASA
  • GTVTAAN
  • VVVDGVRTPFLLSGTSYKDLMPHDLARAAL

Post-translational modifications for HADHB Gene

  • Ubiquitination at posLast=268268
  • Modification sites at PhosphoSitePlus

Domains & Families for HADHB Gene

Gene Families for HADHB Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

P55084

UniProtKB/Swiss-Prot:

ECHB_HUMAN :
  • Belongs to the thiolase family.
Family:
  • Belongs to the thiolase family.
genes like me logo Genes that share domains with HADHB: view

Function for HADHB Gene

Molecular function for HADHB Gene

GENATLAS Biochemistry:
mitochondrial,membrane bound fatty acid beta-oxidation trifunctional enzyme,beta subunit,harboring the long chain 3-oxoacyl-CoA thiolase
UniProtKB/Swiss-Prot CatalyticActivity:
Acyl-CoA + acetyl-CoA = CoA + 3-oxoacyl-CoA.

Enzyme Numbers (IUBMB) for HADHB Gene

Gene Ontology (GO) - Molecular Function for HADHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0003824 catalytic activity IEA --
GO:0003857 3-hydroxyacyl-CoA dehydrogenase activity TAS 1550553
GO:0003988 acetyl-CoA C-acyltransferase activity TAS,IBA --
GO:0004300 enoyl-CoA hydratase activity TAS 1550553
genes like me logo Genes that share ontologies with HADHB: view
genes like me logo Genes that share phenotypes with HADHB: view

Human Phenotype Ontology for HADHB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HADHB
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for HADHB Gene

Localization for HADHB Gene

Subcellular locations from UniProtKB/Swiss-Prot for HADHB Gene

Mitochondrion. Mitochondrion inner membrane. Mitochondrion outer membrane. Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HADHB gene
Compartment Confidence
extracellular 5
mitochondrion 5
endoplasmic reticulum 5
nucleus 3
peroxisome 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HADHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion NAS 7958339
GO:0005740 mitochondrial envelope TAS 1550553
GO:0005741 mitochondrial outer membrane IEA,IDA 21527675
GO:0005743 mitochondrial inner membrane TAS --
GO:0005783 endoplasmic reticulum IEA,IDA 21527675
genes like me logo Genes that share ontologies with HADHB: view

Pathways & Interactions for HADHB Gene

genes like me logo Genes that share pathways with HADHB: view

UniProtKB/Swiss-Prot P55084-ECHB_HUMAN

  • Pathway: Lipid metabolism; fatty acid beta-oxidation.

Gene Ontology (GO) - Biological Process for HADHB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation IBA,TAS --
GO:0008152 metabolic process IEA --
GO:0035965 cardiolipin acyl-chain remodeling TAS --
genes like me logo Genes that share ontologies with HADHB: view

No data available for SIGNOR curated interactions for HADHB Gene

Drugs & Compounds for HADHB Gene

(19) Drugs for HADHB Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Acetoacetyl-CoA Experimental Pharma 0
Hexanoyl-CoA Experimental Pharma 0
myristoyl-coa Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0
Succinyl-CoA Experimental Pharma 0

(63) Additional Compounds for HADHB Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate
  • (E)-S-2-octenoate CoA
  • (E)-S-2-octenoate Coenzyme A
  • (E)-S-2-octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
genes like me logo Genes that share compounds with HADHB: view

Transcripts for HADHB Gene

Unigene Clusters for HADHB Gene

Hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HADHB
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for HADHB Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b
SP1: - -
SP2: -
SP3:
SP4: - - - -
SP5: - - - -
SP6:
SP7:
SP8: -

Relevant External Links for HADHB Gene

GeneLoc Exon Structure for
HADHB
ECgene alternative splicing isoforms for
HADHB

Expression for HADHB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HADHB Gene

mRNA differential expression in normal tissues according to GTEx for HADHB Gene

This gene is overexpressed in Heart - Left Ventricle (x7.6) and Muscle - Skeletal (x6.9).

Protein differential expression in normal tissues from HIPED for HADHB Gene

This gene is overexpressed in Heart (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HADHB Gene



Protein tissue co-expression partners for HADHB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HADHB Gene:

HADHB

SOURCE GeneReport for Unigene cluster for HADHB Gene:

Hs.515848

Evidence on tissue expression from TISSUES for HADHB Gene

  • Nervous system(5)
  • Heart(4.9)
  • Intestine(4.8)
  • Liver(4.8)
  • Muscle(4.7)
  • Blood(4.5)
  • Kidney(4.5)
  • Stomach(4.3)
  • Lung(3)
  • Skin(2.6)
  • Eye(2.1)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HADHB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • kidney
  • liver
Pelvis:
  • placenta
  • uterus
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with HADHB: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for HADHB Gene

Orthologs for HADHB Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HADHB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HADHB 34 33
  • 99.79 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 34
  • 94 (a)
OneToMany
HADHB 33
  • 91.47 (n)
-- 34
  • 65 (a)
OneToMany
cow
(Bos Taurus)
Mammalia HADHB 33 34
  • 90.72 (n)
mouse
(Mus musculus)
Mammalia Hadhb 33 16 34
  • 88.94 (n)
rat
(Rattus norvegicus)
Mammalia Hadhb 33
  • 88.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 88 (a)
OneToMany
-- 34
  • 88 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia HADHB 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves HADHB 33 34
  • 74.79 (n)
lizard
(Anolis carolinensis)
Reptilia HADHB 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hadhb 33
  • 75.23 (n)
MGC75788 33
African clawed frog
(Xenopus laevis)
Amphibia thiolase-prov 33
zebrafish
(Danio rerio)
Actinopterygii hadhb 33 34
  • 71.22 (n)
wufb14g10 33
fruit fly
(Drosophila melanogaster)
Insecta Thiolase 33 34 35
  • 62.99 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011827 33
  • 62.9 (n)
worm
(Caenorhabditis elegans)
Secernentea B0303.3 35 33 34
  • 62.46 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG10 34
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1756 34
  • 65 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4219 33
Species where no ortholog for HADHB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HADHB Gene

ENSEMBL:
Gene Tree for HADHB (if available)
TreeFam:
Gene Tree for HADHB (if available)

Paralogs for HADHB Gene

Paralogs for HADHB Gene

(4) SIMAP similar genes for HADHB Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for HADHB Gene

genes like me logo Genes that share paralogs with HADHB: view

Variants for HADHB Gene

Sequence variations from dbSNP and Humsavar for HADHB Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs121913131 Pathogenic, Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015] 26,279,292(+) TTCTG(A/G)TGTGG reference, missense
rs121913132 Pathogenic, Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015] 26,263,452(+) TGTTC(A/G)CACTC reference, missense
rs121913133 Pathogenic, Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015] 26,279,244(+) ACTGC(A/G)CTCTC reference, missense
rs121913134 Pathogenic, Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015] 26,285,513(+) CAACA(A/G)ATTAC reference, missense
rs371159065 Uncertain significance, Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015] 26,277,115(+) CTCAC(A/C/G)CTGTC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for HADHB Gene

Variant ID Type Subtype PubMed ID
esv1501344 CNV insertion 17803354
esv2719825 CNV deletion 23290073
esv33316 CNV loss 17666407
esv3583674 CNV loss 25503493
nsv1138760 CNV deletion 24896259

Variation tolerance for HADHB Gene

Residual Variation Intolerance Score: 10.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.96; 36.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HADHB Gene

Human Gene Mutation Database (HGMD)
HADHB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HADHB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HADHB Gene

Disorders for HADHB Gene

MalaCards: The human disease database

(10) MalaCards diseases for HADHB Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
trifunctional protein deficiency
  • mitochondrial trifunctional protein deficiency
peroxisomal disease
  • peroxisomal disorder
rhizomelic chondrodysplasia punctata
  • chondrodysplasia punctata, rhizomelic form
3-hydroxyacyl-coenzyme a dehydrogenase deficiency
  • 3-hydroxyacyl-coa dehydrogenase deficiency
vlcad deficiency
  • very long-chain acyl-coenzyme a dehydrogenase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search HADHB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ECHB_HUMAN
  • Mitochondrial trifunctional protein deficiency (MTPD) [MIM:609015]: A disease biochemically characterized by loss of all enzyme activities of the mitochondrial trifunctional protein complex. Variable clinical manifestations include hypoglycemia, cardiomyopathy, delayed psychomotor development, sensorimotor axonopathy, generalized weakness, hepatic dysfunction, respiratory failure. Sudden infant death may occur. Most patients die from heart failure. {ECO:0000269 PubMed:12754706, ECO:0000269 PubMed:8651282, ECO:0000269 PubMed:9259266}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HADHB

Genetic Association Database (GAD)
HADHB
Human Genome Epidemiology (HuGE) Navigator
HADHB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HADHB
genes like me logo Genes that share disorders with HADHB: view

No data available for Genatlas for HADHB Gene

Publications for HADHB Gene

  1. 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. (PMID: 9605857) Aoyama T … Fukushima Y (Cytogenetics and cell genetics 1997) 2 3 22 60
  2. Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency. (PMID: 9259266) Orii KE … Hashimoto T (Human molecular genetics 1997) 3 4 22 60
  3. Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits. (PMID: 8651282) Ushikubo S … Hashimoto T (American journal of human genetics 1996) 3 4 22 60
  4. Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients. (PMID: 8163672) Kamijo T … Hashimoto T (The Journal of clinical investigation 1994) 3 4 22 60
  5. Human cytomegalovirus directly induces the antiviral protein viperin to enhance infectivity. (PMID: 21527675) Seo JY … Cresswell P (Science (New York, N.Y.) 2011) 3 4 60

Products for HADHB Gene

Sources for HADHB Gene

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