Enzymes Recombinant Proteins

Human HSD17B10 Recombinant Protein (RPPB3721)

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SKU:
RPPB3721
Product Type:
Recombinant Protein
Species:
Human
Uniprot:
Q99714
Research Area:
Enzymes

Description

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Product Name:Human HSD17B10 Recombinant Protein
Product Code:RPPB3721
Size:25µg
Species:Human
Target:HSD17B10
Synonyms:17b-HSD10, ABAD, CAMR, DUPXp11.22, ERAB, HADH2, HCD2, MHBD, MRPP2, MRX17, MRX31, SCHAD, MRXS10, SDR5C1.
Source:Escherichia Coli
Physical Appearance:Sterile filtered colorless solution.
Formulation:HSD17B10 protein solution (1mg/ml) containing 20mM Tris-HCl buffer (pH8.0), 0.1M NaCl, 1mM DTT & 10% glycerol.
Stability:Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles.
Purity:Greater than 95% as determined by SDS-PAGE.
Amino Acid Sequence: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

HSD17B10 functions in mitochondrial tRNA maturation. HSD17B10 is part of mitochondrial ribonuclease P, an enzyme composed of MRPP1/RG9MTD1, MRPP2/HSD17B10 and MRPP3/KIAA0391, which cleaves tRNA molecules in their 5''-ends. HSD17B10 interacts with intracellular amyloid-beta, and contributes to the neuronal dysfunction associated with Alzheimer disease.

HSD17B10 Human Recombinant produced in E.Coli is a single, non-glycosylated, polypeptide chain containing 271 amino acids (12-261 a.a.) and having a molecular mass of 28.1 kDa. HSD17B10 protein is fused to a 21 amino acid His-Tag at N-terminus and purified by standard chromatography.

UniProt Protein Function: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.
UniProt Protein Details:

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

Chromosomal Location of Human Ortholog: Xp11.2

Cellular Component: mitochondrion; endoplasmic reticulum; mitochondrial matrix; 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

NCBI Summary: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 Code:Q99714
NCBI GenInfo Identifier:2492759
NCBI Gene ID:3028
NCBI Accession:Q99714.3
UniProt Secondary Accession:Q99714,Q5H927, Q6IBS9, Q8TCV9, Q96HD5,
UniProt Related Accession:Q99714
Molecular Weight:261
NCBI Full Name:3-hydroxyacyl-CoA dehydrogenase type-2
NCBI 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; mitochondrial RNase P subunit 2; AB-binding alcohol dehydrogenase; mitochondrial ribonuclease P protein 2; 3-hydroxy-2-methylbutyryl-CoA dehydrogenase; short chain type dehydrogenase/reductase XH98G2; amyloid-beta peptide binding alcohol dehydrogenase; short chain L-3-hydroxyacyl-CoA dehydrogenase type 2; short chain dehydrogenase/reductase family 5C, member 1; endoplasmic reticulum-associated amyloid beta-peptide-binding protein
UniProt Protein Name:3-hydroxyacyl-CoA dehydrogenase type-2
UniProt Synonym Protein Names: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
Protein Family:3-hydroxyacyl-CoA dehydrogenase
UniProt Gene Name:HSD17B10��
UniProt Entry Name:HCD2_HUMAN
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