FIGURE: 1 / 10
Immunogen sequence: MAAACRSVK GLVAVITGGA SGLGLATAER LVGQGASAVL LDLPNSGGEA QAKKLGNNCV FAPADVTSEK DVQTALALAK GKFGRVDVAV NCAGIAVASK TYNLKKGQTH TLEDFQRVLD VNLMGTFNVI RLVAGEMGQN EPDQGGQRGV IINTASVAAF EGQVGQAAYS ASKGGIVGMT LPIARDLAPI GLFGTPLLTS LPEKVCNFLA SQVPFPSRLG DPAEYAHLVQ AIIENPFLNG EVIRLDGAIR MQP (1-252 aa encoded by BC008708)
This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids, alcohols, and steroids. The protein 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). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined.
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Protein Aliases: 17-beta-estradiol 17-dehydrogenase; 17-beta-HSD 10; 17-beta-hydroxysteroid dehydrogenase 10; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase; 3-alpha-(17-beta)-hydroxysteroid dehydrogenase (NAD(+)); 3-hydroxy-2-methylbutyryl-CoA dehydrogenase; 3-hydroxyacyl-CoA dehydrogenase type II; 3-hydroxyacyl-CoA dehydrogenase type-2; 3alpha(or 20beta)-hydroxysteroid dehydrogenase; 7-alpha-hydroxysteroid dehydrogenase; AB-binding alcohol dehydrogenase; amyloid beta-peptide binding protein; amyloid-beta peptide binding alcohol dehydrogenase; Endoplasmic reticulum-associated amyloid beta-peptide-binding protein; HADH2 protein; hydroxyacyl-Coenzyme A dehydrogenase type II; hydroxyacyl-Coenzyme A dehydrogenase, type II; hydroxysteroid (17-beta) dehydrogenase 10; hydroxysteroid dehydrogenase 10; MHBD; mitochondrial ribo; Mitochondrial ribonuclease P protein 2; mitochondrial RNas; Mitochondrial RNase P protein 2; mitochondrial RNase P subunit 2; RP3-339A18.2; Short chain dehydrogenase/reductase family 5C member 1; short chain dehydrogenase/reductase family 5C, member 1; short chain L-3-hydroxyacyl-CoA dehydrogenase; short chain L-3-hydroxyacyl-CoA dehydrogenase type 2; short chain type dehydrogenase/reductase XH98G2; Short-chain type dehydrogenase/reductase XH98G2; type 10 17b-HSD; Type II HADH
Gene Aliases: 17b-HSD10; 17bHSD10; ABAD; Ads9; CAMR; DUPXp11.22; ERAB; HADH2; HCD2; HSD17B10; MHBD; MRPP2; MRX17; MRX31; MRXS10; SCHAD; SDR5C1; XH98G2
Molecular Function: oxidoreductase