| Entrez gene ID | | 3032 |
|
| Official gene symbol | | HADHB |
|
| Full name | | hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit |
|
| Aliases | | ,ECHB,MGC87480,MSTP029,MTPB,TP-BETA, |
|
| Gene summary | | 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. Mutations in this gene result in trifunctional protein deficiency. 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. Alternatively spliced transcript variants have been found; however, their full-length nature is not known. [provided by RefSeq] |
|
| Location | | Chromosome: 2 Locus: 2p23 |
|
| Gene position | | 26467616 - 26513333 Map Viewer |
|
| Gene orientation | | plus |
|
| Gene size | | 45718 bp |
|
| Gene sequence |
| |
|
| OMIM ID | | 143450 |
|
|
