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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

Interactions

molecular events

Related

A4 amyloid peptide; beta-peptide

General

17 beta-hydroxysteroid dehydrogenase (estradiol 17 beta-dehydrogenase, HSD17B1) 3-OH acyl CoA dehydrogenase membrane protein

Properties

SIZE: entity length = 261 aa MW = 27 kD COMPARTMENT: mitochondrial matrix MOTIF: cofactor-binding site [12-41] COFACTOR-BOUND: NAD binding site SITE: 155-155 FOR-BINDING-OF: Substrate tyrosine residue {Y168} cofactor-binding site [172-172] COFACTOR-BOUND: NAD

Database Correlations

OMIM correlations UniProt Q99714 Pfam PF00106 ENZYME 1.1.1.35

References

  1. UniProt :accession Q99714
  2. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD17B10
  3. Yan et al. Nature 389:689-95, 1998
  4. Lustbader et al. ABAD directly links Aeta to mitochondrial toxicity in Alzheimer's disease Science 304:448-452, 2004 PMID: 15087549

Component-of

molecular complex