17-Beta-Hydroxysteroid Dehydrogenase Type 10 (HSD17b10)

17b-HSD10; ABAD; ERAB; HADH2; HCD2; MHBD; SCHAD; SDR5C1, MRPP2; CAMR; 3-Hydroxyacyl-CoA Dehydrogenase Type-2; AB-Binding Alcohol Dehydrogenase

SPN	R622
HGNC	4800
MGI	1333871
PubMed	19449377
RGD	69231
UniProt	Q99714
Wiki	HSD17B10

HSD17b10 has been implicated in the development of Alzheimer's disease, and mutations in the gene are the cause of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD). ERAB was expressed in normal tissues but was overexpressed in neurons from patients with Alzheimer disease. ERAB immunoprecipitated with beta-amyloid, and when cell cultures were exposed to beta-amyloid, ERAB inside the cell was rapidly redistributed to the plasma membrane. SCHAD is a multifunctional enzyme. Immunohistochemical analysis showed that mature SCHAD localized to the mitochondria. SCHAD is a single-domain multifunctional enzyme that functions in 2 different pathways of lipid metabolism: mitochondrial fatty acid oxidation and steroid hormone metabolism.

Reference

"An intracellular protein that binds amyloid-beta peptide and mediates neurotoxicity in Alzheimer's disease."
Nature 389:689-695(1997) [PubMed] [Europe PMC] [Abstract]

"Chromosomal basis of X chromosome inactivation: identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation."
Proc. Natl. Acad. Sci. U.S.A. 95:8709-8714(1998) [PubMed] [Europe PMC] [Abstract]

"A human brain L-3-hydroxyacyl-coenzyme A dehydrogenase is identical to an amyloid beta-peptide-binding protein involved in Alzheimer's disease."
J. Biol. Chem. 273:10741-10746(1998) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of the human X chromosome."
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Expanded substrate screenings of human and Drosophila type 10 17beta-hydroxysteroid dehydrogenases (HSDs) reveal multiple specificities in bile acid and steroid hormone metabolism: characterization of multifunctional 3alpha/7alpha/7beta/17beta/20beta/21-HSD."
Biochem. J. 376:49-60(2003) [PubMed] [Europe PMC] [Abstract]

"The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior."
Am. J. Hum. Genet. 80:372-377(2007) [PubMed] [Europe PMC] [Abstract]

"Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation."
Am. J. Hum. Genet. 82:432-443(2008) [PubMed] [Europe PMC] [Abstract]

"RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme."
Cell 135:462-474(2008) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Crystal structure of human ABAD/HSD10 with a bound inhibitor: implications for design of Alzheimer's disease therapeutics."
J. Mol. Biol. 342:943-952(2004) [PubMed] [Europe PMC] [Abstract]

"ABAD directly links Abeta to mitochondrial toxicity in Alzheimer's disease."
Science 304:448-452(2004) [PubMed] [Europe PMC] [Abstract]

"2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene."
Am. J. Hum. Genet. 72:1300-1307(2003) [PubMed] [Europe PMC] [Abstract]

"2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease."
Pediatr. Res. 58:488-491(2005) [PubMed] [Europe PMC] [Abstract]

Erratum
Pediatr. Res. 59:162-162(2006)