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Known Diseases associated with this Protein: |  3-ALPHA-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY (HADH DEFICIENCY)
| FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA 4 (HHF4)
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|  | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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 Default View:
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Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_024079 | Disease | p.ALA40THR | 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) | | Swiss-Prot | VAR_024080 | Disease | p.ASP57GLU | 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) | | Swiss-Prot | VAR_055701 | Polymorphism | p.GLN152HIS | N/A | | Swiss-Prot | VAR_026764 | Polymorphism | p.LEU86PRO | N/A | | Swiss-Prot | VAR_024081 | Disease | p.PRO258LEU | Familial hyperinsulinemic hypoglycemia 4 (HHF4) |
Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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311033442
HCDH_HUMAN RecName: Full=Hydroxyacyl-coenzyme A dehydrogenase, mitochondrial; Short=HCDH; AltName: Full=Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase; AltName: Full=Short-chain 3-hydroxyacyl-CoA dehydrogenase; Flags: Precursor
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