HSD17B10 recombinant protein

Recombinant Human HSD17B10 Protein

Cat. Num. AAA8249173

• Gene Names: HSD17B10; ABAD; CAMR; ERAB; HCD2; MHBD; HADH2; MRPP2; MRX17; MRX31; SCHAD; MRXS10; SDR5C1; 17b-HSD10; DUPXp11.22
• Reactivity: Human
• Applications: ELISA, Western Blot, SDS-Page
• Purity: Greater than 95% as determined by reducing SDS-PAGE.
• Synonyms: HSD17B10; Recombinant Human HSD17B10 Protein; ERAB; HADH2; MRPP2; SCHAD; XH98G2; 3-hydroxyacyl-CoA dehydrogenase type-2; 17-beta-hydroxysteroid dehydrogenase 10; 17-beta-HSD 10; 3-hydroxy-2-methylbutyryl-CoA dehydrogenase; 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 recombinant protein

• Host: Human cells
• Reactivity: Human
• Purity/Purification: Greater than 95% as determined by reducing SDS-PAGE.
• Form/Format: Supplied as a 0.2 muM filtered solution of 20mM Trsi HCl, 0.1M NaCl, 1mM DT, 10% glycerol, pH 8.0.
• Sequence: MAAACRSVKG LVAVITGGAS GLGLATAERL VGQGASAVLL DLPNSGGEAQ AKKLGNNCVF APADVTSEKD VQTALALAKG KFGRVDVAVN CAGIAVASKT YNLKKGQTHT LEDFQRVLDV NLMGTFNVIR LVAGEMGQNE PDQGGQRGVI INTASVAAFE GQVGQAAYSA SKGGIVGMTL PIARDLAPIG IRVMTIAPGL FGTPLLTSLP EKVCNFLASQ VPFPSRLGDP AEYAHLVQAI IENPFLNGEV IRLDGAIRMQ PVDHHHHHH
• Sequence Length: 252

• Applicable Applications for HSD17B10 recombinant protein: ELISA (EIA),Western Blot (WB), SDS-PAGE, Mass Spectrometry (MS)
• Endotoxin: Less than 0.1 ng/mug (1 IEU/mug) as determined by LAL test.
• Directions for Use: Always centrifuge tubes before opening. Do not mix by vortex or pipetting. It is not recommended to reconstitute to a concentration less than 100 mug/ml. Dissolve the lyophilized protein in 1X PBS. Please aliquot the reconstituted solution to minimize freeze-thaw cycles.
• Preparation and Storage: Lyophilized protein should be stored at -20 degree C, though stable at room temperature for 3 weeks. Reconstituted protein solution can be stored at 2-8 degree C for 2-7 days. Aliquots of reconstituted samples are stable at -20 degree C for 3 months.

Related Product Information for HSD17B10 recombinant protein

Recombinant Human HSD17B10 Protein is produced by our mammalian expression system and the target gene encoding Met1-Pro261 is expressed with a 6His tag at the C-terminus.

NCBI and Uniprot Product Information

• NCBI GI #: 83715985
• NCBI GeneID: 3028
• NCBI Accession #: NP_001032900.1
• NCBI GenBank Nucleotide #: NM_001037811.2
• UniProt Accession #: Q99714; Q5H927; Q6IBS9; Q8TCV9; Q96HD5
• Molecular Weight: 25,984 Da
• NCBI Official Full Name: 3-hydroxyacyl-CoA dehydrogenase type-2 isoform 2
• NCBI Official Synonym Full Names: hydroxysteroid 17-beta dehydrogenase 10
• NCBI Official Symbol: HSD17B10
• NCBI Official Synonym Symbols: ABAD; CAMR; ERAB; HCD2; MHBD; HADH2; MRPP2; MRX17; MRX31; SCHAD; MRXS10; SDR5C1; 17b-HSD10; DUPXp11.22
• NCBI Protein Information: 3-hydroxyacyl-CoA dehydrogenase type-2
• UniProt Protein Name: 3-hydroxyacyl-CoA dehydrogenase type-2
• Protein Family: 3-hydroxyacyl-CoA dehydrogenase
• UniProt Gene Name: HSD17B10
• UniProt Synonym Gene Names: ERAB; HADH2; MRPP2; SCHAD; SDR5C1; XH98G2; 17-beta-HSD 10; Mitochondrial RNase P protein 2
• UniProt Entry Name: HCD2_HUMAN

NCBI Description

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]

Uniprot Description

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: Amino Acid Metabolism - valine, leucine and isoleucine degradation; EC 1.1.1.178; EC 1.1.1.35; EC 1.1.1.51; Mitochondrial; Oxidoreductase

Chromosomal Location of Human Ortholog: Xp11.2

Cellular Component: cytoplasm; mitochondrial matrix; mitochondrion; plasma membrane

Molecular Function: 3-hydroxyacyl-CoA dehydrogenase activity; 7-alpha-hydroxysteroid dehydrogenase activity; protein binding

Biological Process: branched chain family amino acid catabolic process; lipid metabolic process

Disease: 17-beta-hydroxysteroid Dehydrogenase X Deficiency; Mental Retardation, X-linked, Syndromic 10