Human 3-hydroxyacyl-CoA dehydrogenase type-2 ELISA Kit | HSD17B10 elisa kit
Human 3-hydroxyacyl-CoA dehydrogenase type-2 ELISA Kit
NCBI and Uniprot Product Information
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: Xp11.22
Cellular Component: cytoplasm; mitochondrial matrix; mitochondrion; plasma membrane
Molecular Function: 3-hydroxyacyl-CoA dehydrogenase activity; 7-alpha-hydroxysteroid dehydrogenase activity; protein binding; RNA 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
Research Articles on HSD17B10
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Product Notes
The Human HSD17B10 hsd17b10 (Catalog #AAA9428507) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9428507 ELISA Kit recognizes Human HSD17B10. It is sometimes possible for the material contained within the vial of "3-hydroxyacyl-CoA dehydrogenase type-2, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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