DISEASES

Disease-gene associations mined from literature

Literature associating HADHB and erythroleukemia

HADHB [ENSP00000325136]

Trifunctional enzyme subunit beta, mitochondrial; Mitochondrial trifunctional enzyme catalyzes the last three of the four reactions of the mitochondrial beta-oxidation pathway . The mitochondrial beta-oxidation pathway is the major energy-producing process in tissues and is performed through four consecutive reactions breaking down fatty acids into acetyl-CoA . Among the enzymes involved in this pathway, the trifunctional enzyme exhibits specificity for long- chain fatty acids . Mitochondrial trifunctional enzyme is a heterotetrameric complex composed of two proteins, the trifunctional enzyme subunit alpha/HADHA carries the 2,3-enoyl-CoA hydratase and the 3-hydroxyacyl-CoA dehydrogenase activities, while the trifunctional enzyme subunit beta/HADHB described here bears the 3- ketoacyl-CoA thiolase activity (PubMed:8135828, PubMed:29915090, PubMed:30850536). ECO:0000269|PubMed:30850536, ECO:0000269|PubMed:8135828,; Belongs to the thiolase-like superfamily. Thiolase family.

Synonyms:  HADHB,  B5MD38,  C9JE81,  C9JEY0,  C9K0M0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM