3-OH acyl CoA dehydrogenase-2; 17-beta-hydroxysteroid dehydrogenase 10; type 2 HADH; A-beta binding alcohol dehydrogenase; endoplasmic reticulum-associated amyloid beta-peptide binding protein; short-chain type dehydrogenase/reductase (XH98G2, HSD17B10, ERAB, HADH2, SCHAD)

Function

• dehydrogenase
• binds intracellular amyloid-beta peptide

(S)-3-hydroxyacyl-CoA + NAD+ <--> 3-oxoacyl-CoA + NADH

(2S,3S)-3-hydroxy-2-methylbutanoyl-CoA + NAD+
              <-->
2-methylacetoacetyl-CoA + NADH

Structure

• homotetramer (putative)
• belongs to the short-chain dehydrogenases/reductases (SDR) family

Alternative splicing

named isoforms=2

Expression

• expressed in normal tissues

Pathology

• defects in HSD17B10 are the cause of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
• defects in HSD17B10 are the cause of X-linked syndromic mental retardation type 10 (X-linked mental retardation, syndromic 10) & X-linked mental retardation type 17 (X-linked mental retardation 17/X-linked mental retardation 31)
• overexpressed in neurons affected in Alzheimer's disease (AD)
• by interacting with amyloid-beta, it may contribute to the neuronal dysfunction associated with AD
• A4 amyloid interacts with ERAB in mitochondria & inhibits function
• promotes leakage of reactive oyxgen species, mitochondrial dysfunction & cell death.
• A4 bound to ERAB distorts the NAD binding pocket & the catalytic triad

More general terms

• 3-OH acyl CoA dehydrogenase
• 17 beta-hydroxysteroid dehydrogenase
• membrane protein

Additional terms

• A4 amyloid peptide; beta-peptide

Database

• OMIM: https://mirror.omim.org/entry/300220
• OMIM: https://mirror.omim.org/entry/300256
• OMIM: https://mirror.omim.org/entry/300438
• UniProt: http://www.uniprot.org/uniprot/Q99714.html