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Results for the Protein: Q16836
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

Known Diseases associated with this Protein:
  3-ALPHA-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY (HADH DEFICIENCY)
  FAMILIAL HYPERINSULINEMIC HYPOGLYCEMIA 4 (HHF4)
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5
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Default View:

FadB - COG1250
3HCDH_N - pfam02737
3HCDH - pfam00725


Swiss-Prot Protein: Q16836
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FadBCOG12504.1e-11625314
3HCDH_Npfam027373.3e-8929214
3HCDHpfam007253.4e-49216313

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_024079Diseasep.ALA40THR3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency)
Swiss-ProtVAR_024080Diseasep.ASP57GLU3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency)
Swiss-ProtVAR_055701Polymorphismp.GLN152HISN/A
Swiss-ProtVAR_026764Polymorphismp.LEU86PRON/A
Swiss-ProtVAR_024081Diseasep.PRO258LEUFamilial hyperinsulinemic hypoglycemia 4 (HHF4)



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