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Gene : HADHB Homo sapiens

Name  ? hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta Cytological Location  2p23.3
Brief Description  hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
Description  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]
  • synonyms:
  • hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit,
  • ECHB,
  • HADHB,
  • uc002rgz.4,
  • MTPB,
  • TP-BETA,
  • NM_000183,
  • MTPB,
  • MSTP029,
  • HGNC:4803,
  • hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit,
  • mitochondrial trifunctional protein, beta subunit,
  • OTTHUMG00000096978
  • identifiers:
  • 3032,
  • ENSG00000138029,
  • HADHB

Genome feature

Region: gene ? Length: 45718  
Location: 2:26244748-26290465 Cyto location: 2p23.3


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Disease

1 Diseases

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3753 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results