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L2HGDH Antibody (Center) Blocking peptide
Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
| Primary Accession | Q9H9P8 |
|---|---|
| Other Accession | NP_079160.1 |
| Clone Names | 91102294 |
| Gene ID | 79944 |
|---|---|
| Other Names | L-2-hydroxyglutarate dehydrogenase, mitochondrial, Duranin, L2HGDH, C14orf160 |
| Format | Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed. |
| Storage | Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C. |
| Precautions | This product is for research use only. Not for use in diagnostic or therapeutic procedures. |
| Name | L2HGDH |
|---|---|
| Synonyms | C14orf160 |
| Cellular Location | Mitochondrion. |
| Tissue Location | Widely expressed. Highly expressed in brain, testis and muscle. Expressed to a lower extent in lymphocytes, fibroblasts, keratinocytes, placenta, bladder, small intestine, liver and bone marrow. |
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Provided below are standard protocols that you may find useful for product applications.
Background
This gene encodes L-2-hydroxyglutarate dehydrogenase, aFAD-dependent enzyme that oxidizes L-2-hydroxyglutarate toalpha-ketoglutarate in a variety of mammalian tissues. Mutations inthis gene cause L-2-hydroxyglutaric aciduria, a rare autosomalrecessive neurometabolic disorder resulting in moderate to severemental retardation.
References
Short, A.D., et al. Vet. Rec. 167(12):455-457(2010)Steenweg, M.E., et al. Hum. Mutat. 31(4):380-390(2010)Kranendijk, M., et al. Hum. Mutat. 31(3):279-283(2010)Vilarinho, L., et al. J. Hum. Genet. 55(1):55-58(2010)Haliloglu, G., et al. Neuropediatrics 39(2):119-122(2008)
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