HADHA Chromosome 2
Hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
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What This Gene Does
This gene encodes the alpha 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 alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. 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. [provided by RefSeq, Jul 2008]
Associated Conditions (14)
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Mitochondrial trifunctional protein deficiency
HADHA-related disorder
Mitochondrial trifunctional protein deficiency 1
Inborn genetic diseases
Squamous cell carcinoma of the head and neck
Thyroid cancer
nonmedullary
1
LCHAD deficiency with maternal acute fatty liver of pregnancy
Metabolic disease
Nonpapillary renal cell carcinoma
Hepatocellular carcinoma
See cases
Key Variants
RS116320983
Conflicting classifications of pathogenicity
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, HADHA-related disorder
Health Risk
RS116396996
Conflicting classifications of pathogenicity
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, HADHA-related disorder
Health Risk
RS1231960929
Conflicting classifications of pathogenicity
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Health Risk
RS1240187200
Conflicting classifications of pathogenicity
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Health Risk
RS137852774
Conflicting classifications of pathogenicity
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 1
Health Risk
RS141164185
Conflicting classifications of pathogenicity
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Inborn genetic diseases
Health Risk
RS141429393
Conflicting classifications of pathogenicity
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, HADHA-related disorder
Health Risk
RS143414408
Conflicting classifications of pathogenicity
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Inborn genetic diseases
Health Risk
RS143832445
Conflicting classifications of pathogenicity
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Inborn genetic diseases
Health Risk
RS1453533016
Conflicting classifications of pathogenicity
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Health Risk
RS145422395
Conflicting classifications of pathogenicity
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 1
Health Risk
RS149021400
Conflicting classifications of pathogenicity
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
Health Risk
All Variants (233)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1298883200 | Health Risk | Pathogenic/Likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS1303177735 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency |
| RS1445488113 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency 1 |
| RS147103714 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency 1 |
| RS1553312033 | Health Risk | Pathogenic/Likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS1553316142 | Health Risk | Pathogenic/Likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency 1, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS1553316176 | Health Risk | Pathogenic/Likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 1 |
| RS1574600309 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency |
| RS1574602991 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Hepatocellular carcinoma |
| RS1669575714 | Health Risk | Pathogenic/Likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency |
| RS1670591013 | Health Risk | Pathogenic/Likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS1670695733 | Health Risk | Pathogenic/Likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS200017313 | Health Risk | Pathogenic/Likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 1 |
| RS2147762308 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency |
| RS2147768516 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency |
| RS2147781182 | Health Risk | Pathogenic/Likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 1 |
| RS2465508638 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency |
| RS2465508716 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency |
| RS2465513035 | Health Risk | Pathogenic/Likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 1 |
| RS2465517597 | Health Risk | Pathogenic/Likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS2465608988 | Health Risk | Pathogenic/Likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS747985669 | Health Risk | Pathogenic/Likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS749848370 | Health Risk | Pathogenic/Likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS764557236 | Health Risk | Pathogenic/Likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 1 |
| RS769580842 | Health Risk | Pathogenic/Likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 1 |
| RS771028541 | Health Risk | Pathogenic/Likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 1 |
| RS779640035 | Health Risk | Pathogenic/Likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS781222705 | Health Risk | Pathogenic/Likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 1 |
| RS786204607 | Health Risk | Pathogenic/Likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 1 |
| RS786205088 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency 1 |
| RS796051971 | Health Risk | Pathogenic/Likely pathogenic | See cases, Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS868693884 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency 1 |
| RS868816467 | Health Risk | Pathogenic/Likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |