HADHB Chromosome 2
Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
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What This Gene Does
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]
Associated Conditions (11)
Mitochondrial trifunctional protein deficiency
Inborn genetic diseases
Mitochondrial trifunctional protein deficiency 1
Mitochondrial trifunctional protein deficiency 2
Cervical cancer
Thyroid cancer
nonmedullary
1
HADHB-related disorder
Mitochondrial trifunctional protein deficiency 2 with myopathy and neuropathy
HADHA-related disorder
Key Variants
RS1018820638
Conflicting classifications of pathogenicity
Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
Health Risk
RS1297095534
Conflicting classifications of pathogenicity
Mitochondrial trifunctional protein deficiency, Inborn genetic diseases, Mitochondrial trifunctional protein deficiency 1
Health Risk
RS144093705
Conflicting classifications of pathogenicity
Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
Health Risk
RS146328300
Conflicting classifications of pathogenicity
Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 2, Mitochondrial trifunctional protein deficiency
Health Risk
RS1484394551
Conflicting classifications of pathogenicity
Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
Health Risk
RS151302743
Conflicting classifications of pathogenicity
Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
Health Risk
RS1574662730
Conflicting classifications of pathogenicity
Mitochondrial trifunctional protein deficiency 2, Mitochondrial trifunctional protein deficiency 2
Health Risk
RS2147830061
Conflicting classifications of pathogenicity
Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
Health Risk
RS371159065
Conflicting classifications of pathogenicity
Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 1, Mitochondrial trifunctional protein deficiency 2
Health Risk
RS371257973
Conflicting classifications of pathogenicity
Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
Health Risk
RS374840025
Conflicting classifications of pathogenicity
Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
Health Risk
RS375654005
Conflicting classifications of pathogenicity
Mitochondrial trifunctional protein deficiency 2, Mitochondrial trifunctional protein deficiency 1, Mitochondrial trifunctional protein deficiency 2
Health Risk
All Variants (106)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1018820638 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS1297095534 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial trifunctional protein deficiency, Inborn genetic diseases, Mitochondrial trifunctional protein deficiency 1 |
| RS144093705 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS146328300 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 2, Mitochondrial trifunctional protein deficiency |
| RS1484394551 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS151302743 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS1574662730 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial trifunctional protein deficiency 2, Mitochondrial trifunctional protein deficiency 2 |
| RS2147830061 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS371159065 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 1, Mitochondrial trifunctional protein deficiency 2 |
| RS371257973 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS374840025 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS375654005 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial trifunctional protein deficiency 2, Mitochondrial trifunctional protein deficiency 1, Mitochondrial trifunctional protein deficiency 2 |
| RS764006338 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 2, Mitochondrial trifunctional protein deficiency |
| RS768738452 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial trifunctional protein deficiency 1, Mitochondrial trifunctional protein deficiency 1 |
| RS770736746 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS780072612 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS891954464 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 2 |
| RS1131691427 | Health Risk | Likely pathogenic | — |
| RS1305784673 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS1329030528 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS1370999216 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS1376342675 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS1440619293 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS144711755 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS1574663316 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS1672558537 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS1672655257 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS1672691264 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS1672723966 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency 1, Mitochondrial trifunctional protein deficiency 1 |
| RS1672959153 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS200718690 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS2147832276 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS2465675085 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS2465706472 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS2465706981 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS2465707018 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS2465717848 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS2465722826 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS2465730931 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Cervical cancer, Mitochondrial trifunctional protein deficiency |
| RS2465734586 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS2465734892 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Thyroid cancer, nonmedullary |
| RS2465737193 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency 2, Mitochondrial trifunctional protein deficiency 2 |
| RS2465737402 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS2465738712 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS2465738798 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency 1, Mitochondrial trifunctional protein deficiency 1 |
| RS2465739060 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS2465739324 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS750956714 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS752410797 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, HADHB-related disorder, Mitochondrial trifunctional protein deficiency |
| RS752485728 | Health Risk | Likely pathogenic | Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |