Property Summary

NCBI Gene PubMed Count 38
Grant Count 17
R01 Count 11
Funding $1,297,528.43
PubMed Score 108.63
PubTator Score 80.80

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Gene RIF (15)

PMID Text
26109258 Exposure to bezafibrate (400 muM for 48 h) increased the abundance of HADHA and HADHB mRNAs.
25816318 nonstructural protein 5 (NS5) interacted with hydroxyacyl-CoA dehydrogenase alpha and beta subunits, two components of the mitochondrial trifunctional protein (MTP) involved in LCFA beta-oxidation
24664533 Mutations in HADHB, which encodes the beta-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.
24314034 Heterozygous mutation in HADHB gene cause early-onset axonal axonal Charcot-Marie-tooth disease.
23000159 The results demonstrated that ERbeta was indeed associated and colocalized with HADHB within mitochondria.
22375075 HADHB is a functional molecular target of estrogen receptor alpha in the mitochondria, and the interaction may play an important role in the estrogen-mediated lipid metabolism in animals and humans.
22190034 HIV-1 Vpu is identified to have a physical interaction with hydroxyacyl-CoA dehydrogenase beta subunit (HADHB) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
22000755 mutational analysis of the HADHB gene, which encodes long-chain 3-ketoacyl-CoA thiolase, identified compound heterozygous mutations of c.520C>T (p.R141C) and c.1331G>A (p.R411K) in a case of mitochondrial trifunctional protein deficiency
21549624 Results emphasize the value of cDNA analysis in the characterization of HADHA and HADHB mutations and further strengthen the model of haploinsufficiency as a major pathomechanism in MTP defects.
20877624 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MTILTYPFKNLPTASKWALRFSIRPLSCSSQLRAAPAVQTKTKKTLAKPNIRNVVVVDGVRTPFLLSGTS      1 - 70
YKDLMPHDLARAALTGLLHRTSVPKEVVDYIIFGTVIQEVKTSNVAREAALGAGFSDKTPAHTVTMACIS     71 - 140
ANQAMTTGVGLIASGQCDVIVAGGVELMSDVPIRHSRKMRKLMLDLNKAKSMGQRLSLISKFRFNFLAPE    141 - 210
LPAVSEFSTSETMGHSADRLAAAFAVSRLEQDEYALRSHSLAKKAQDEGLLSDVVPFKVPGKDTVTKDNG    211 - 280
IRPSSLEQMAKLKPAFIKPYGTVTAANSSFLTDGASAMLIMAEEKALAMGYKPKAYLRDFMYVSQDPKDQ    281 - 350
LLLGPTYATPKVLEKAGLTMNDIDAFEFHEAFSGQILANFKAMDSDWFAENYMGRKTKVGLPPLEKFNNW    351 - 420
GGSLSLGHPFGATGCRLVMAAANRLRKEGGQYGLVAACAAGGQGHAMIVEAYPK                    421 - 474
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Text Mined References (43)

PMID Year Title
26109258 2016 Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25816318 2015 Japanese encephalitis virus nonstructural protein NS5 interacts with mitochondrial trifunctional protein and impairs fatty acid ?-oxidation.
24664533 2014 Mutations in HADHB, which encodes the ?-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.
24314034 2013 A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23000159 2012 Estrogen receptor beta interacts and colocalizes with HADHB in mitochondria.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
22375075 2012 Estrogen receptor alpha interacts with mitochondrial protein HADHB and affects beta-oxidation activity.
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