HADHB

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]

Description

Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta

Tissue specificity

Tissue enhanced (skeletal muscle, tongue)

Subcell location

Mitochondria

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

2 (26243170 - 26290465)

Ensembl ID

ENSG00000138029  (ver. 103.38)

Orthologs

Mouse Hadhb: ENSMUSG00000059447

UniProt

P55084

neXtProt

NX_P55084

Human splice variants
Mouse splice variants

Protein structure