protein

HSD17B10, 12-261aa, Human, His tag, E Coli

MBS203699

0.1 mg

285 USD

Recombinant Protein

HSD17B10, 12-261aa, Human, His tag, E Coli

HSD17B10

Hydroxyacyl Coenzyme A dehydrogenase type II; Mitochondrial L3 Hydroxyacyl CoA Dehydrogenase; 17 beta hydroxysteroid dehydrogenase 10; 17 beta hydroxysteroid dehydrogenase type 10; 17b HSD10; 3 hydroxy 2 methylbutyryl CoA dehydrogenase; 3 hydroxyacyl CoA dehydrogenase type 2; 3 hydroxyacyl CoA dehydrogenase type II; AB binding alcohol dehydrogenase; ABAD; Ads9; Amyloid beta binding polypeptide; Amyloid beta peptide binding alcohol dehydrogenase; Amyloid beta peptide binding protein; CAMR; DuPXp11.22; Endoplasmic Reticulum Amyloid Binding Protein; Endoplasmic reticulum associated amyloid beta peptide binding protein; ER associated amyloid beta-binding protein; ERAB; HADH 2; HADH2; HCD 2; HCD2; HSD17B10; Hydroxyacyl CoA Dehydrogenase type II; Hydroxysteroid (17 beta) dehydrogenase 10; Mental retardation X linked syndromic 11; MHBD; Mitochondrial ribonuclease P protein 2; Mitochondrial RNase P protein 2; MRPP2; MRX17; SCHAD; SDR5C1; Short chain dehydrogenase/reductase family 5C member 1; Short chain L 3 hydroxyacyl CoA dehydrogenase type 2; Short chain type dehydrogenase/reductase XH98G2; Type 10 17b HSD; Type 10 17beta hydroxysteroid dehydrogenase; Type II HADH; XH98G2; 3-hydroxyacyl-CoA dehydrogenase type-2

3-hydroxyacyl-CoA dehydrogenase type-2 isoform 1; 3-hydroxyacyl-CoA dehydrogenase type-2; 3-hydroxyacyl-CoA dehydrogenase type-2; 3-hydroxy-2-methylbutyryl-CoA dehydrogenase; AB-binding alcohol dehydrogenase; amyloid-beta peptide binding alcohol dehydrogenase; endoplasmic reticulum-associated amyloid beta-peptide-binding protein; mitochondrial RNase P subunit 2; mitochondrial ribonuclease P protein 2; short chain L-3-hydroxyacyl-CoA dehydrogenase type 2; short chain dehydrogenase/reductase family 5C, member 1; short chain type dehydrogenase/reductase XH98G2; hydroxysteroid (17-beta) dehydrogenase 10; 17-beta-hydroxysteroid dehydrogenase 10 (EC:1.1.1.51); 17-beta-HSD 10; 3-hydroxy-2-methylbutyryl-CoA dehydrogenase (EC:1.1.1.178); 3-hydroxyacyl-CoA dehydrogenase type II; Endoplasmic reticulum-associated amyloid beta-peptide-binding protein; Mitochondrial ribonuclease P protein 2; Mitochondrial RNase P protein 2; Short-chain type dehydrogenase/reductase XH98G2; Type II HADH

HSD17B10

HSD17B10; HSD17B10; ABAD; CAMR; ERAB; HCD2; MHBD; HADH2; MRPP2; MRX17; MRX31; SCHAD; MRXS10; SDR5C1; 17b-HSD10; DUPXp11.22; ERAB; HADH2; MRPP2; SCHAD; XH98G2; 17-beta-HSD 10; Mitochondrial RNase P protein 2

HCD2_HUMAN

261

MGSSHHHHHH SSGLVPRGSH MVAVITGGAS GLGLATAERL VGQGASAVLL DLPNSGGEAQ AKKLGNNCVF APADVTSEKD VQTALALAKG KFGRVDVAVN CAGIAVASKT YNLKKGQTHT LEDFQRVLDV NLMGTFNVIR LVAGEMGQNE PDQGGQRGVI INTASVAAFE GQVGQAAYSA SKGGIVGMTL PIARDLAPIG IRVMTIAPGL FGTPLLTSLP EKVCNFLASQ VPFPSRLGDP AEYAHLVQAI IENPFLNGEV IRLDGAIRMQ P

> 95% by SDS-PAGE

Liquid. In 20mM Tris-HCl buffer(pH 8.0) containing 10% glycerol, 1mM DTT, and 100 mM NaCl.

1 mg/ml (determined by Bradford assay)

Can be stored at 4 degree C short term (1-2 weeks). For long term storage, aliquot and store at -20 degree C or -70 degree C. Avoid repeated freezing and thawing cycles.

SDS-PAGE

Antigen Species: Human. Tag: His-tag

Expression System: E Coli

Redox Proteins

HSD17B10 is a member of the short-chain dehydrogenase/reductase superfamily. This mitochondrial protein catalyzes the oxidation of a wide variety of fatty acids, alcohols, and steroids. HSD17B10 plays an important role in processing steroid hormones and fats, and also helps break down the protein building block (amino acid) isoleucine. This enzyme is also necessary for several chemical reactions involving female sex hormones (estrogens) and male sex hormones (androgens). It is essential for maintaining appropriate levels of male and female sex hormones. This protein may contribute to the neuronal dysfunction associated with Alzheimer disease. Recombinant HSD17B10 protein was expressed in E.coli and purified by using conventional chromatography techniques.

Hoizmann J., et al. (2008) Cell. 135(3):462-74. Yan SD., et al. (1997) Nature. 389(6652):689-95.

4758504

NP_004484

NM_004493.2

28.1 kDa (271aa), confirmed by MALDI-TOF.

Alzheimer's Disease Pathway (83097); Alzheimer's Disease Pathway (509); Alzheimers Disease Pathway (672448); Branched-chain Amino Acid Catabolism Pathway (106179); Metabolic Pathways (132956); Metabolism Pathway (477135); Metabolism Of Amino Acids And Derivatives Pathway (106169); Tryptophan Metabolism Pathway (198850); Valine, Leucine And Isoleucine Degradation Pathway (82952); Valine, Leucine And Isoleucine Degradation Pathway (316)

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 and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014]

HADH2: Functions in mitochondrial tRNA maturation. Part of mitochondrial ribonuclease P, an enzyme composed of MRPP1/TRMT10C, MRPP2/HSD17B10 and MRPP3/KIAA0391, which cleaves tRNA molecules in their 5 -ends. By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD). Defects in HSD17B10 are the cause of 2-methyl-3- hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency). MHBD deficiency leads to neurological abnormalities, including psychomotor retardation, and, in virtually all patients, loss of mental and motor skills. Defects in HSD17B10 are the cause of mental retardation syndromic X-linked type 10 (MRXS10). MRXS10 is characterized by mild mental retardation, choreoathetosis and abnormal behavior. A chromosomal microduplication involving HSD17B10 and HUWE1 is the cause of mental retardation X-linked type 17 (MRX17); also known as mental retardation X-linked type 31 (MRX31). Mental retardation is characterized by significantly sub- average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. In contrast to syndromic or specific X- linked mental retardation which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only primary symptom of non- syndromic X-linked mental retardation. Belongs to the short-chain dehydrogenases/reductases (SDR) family. 2 isoforms of the human protein are produced by alternative splicing. Protein type: EC 1.1.1.51; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Oxidoreductase; EC 1.1.1.35; Mitochondrial; EC 1.1.1.178. Chromosomal Location of Human Ortholog: Xp11.2. Cellular Component: mitochondrion; mitochondrial matrix; endoplasmic reticulum; mitochondrial inner membrane; cytoplasm; plasma membrane. Molecular Function: 3(or 17)beta-hydroxysteroid dehydrogenase activity; protein binding; 7-alpha-hydroxysteroid dehydrogenase activity; 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity; 3-hydroxyacyl-CoA dehydrogenase activity. Biological Process: tRNA processing; lipid metabolic process; branched chain family amino acid catabolic process. Disease: Mental Retardation, X-linked, Syndromic 10; 17-beta-hydroxysteroid Dehydrogenase X Deficiency

0.1 mg

285 USD

0.5 mg

640