hydroxyacyl-coenzyme A dehydrogenase, mitochondrial; HCDH; medium & short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase; short-chain 3-hydroxyacyl-CoA dehydrogenase (HADH, HAD, HADHSC, SCHAD)

Function

• mitochondrial beta-oxidation of short chain fatty acids
• highest activity toward 3-hydroxybutyryl-CoA

Structure

• homodimer
• belongs to the 3-hydroxyacyl-CoA dehydrogenase family

Compartment

mitochondrial matrix

Alternative splicing

named isoforms=2

Expression

• expressed in liver, kidney, pancreas, heart, skeletal muscle

Pathology

• defects in HADHSC result in
  • 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency
  • familial hyperinsulinemic hypoglycemia 4

More general terms

• acyl CoA dehydrogenase
• mitochondrial membrane protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3033
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:3033
• OMIM: https://mirror.omim.org/entry/231530
• OMIM: https://mirror.omim.org/entry/601609
• OMIM: https://mirror.omim.org/entry/609975
• UniProt: http://www.uniprot.org/uniprot/Q16836.html