TPK1 cdna clone
TPK1 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a protein, that exists as a homodimer, which catalyzes the conversion of thiamine to thiamine pyrophosphate. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Uniprot Description
TPK1: Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate. Defects in TPK1 are the cause of thiamine metabolism dysfunction syndrome type 5, episodic encephalopathy type (THMD5). An autosomal recessive metabolic disorder due to an inborn error of thiamine metabolism. The phenotype is highly variable, but in general, affected individuals have onset in early childhood of acute encephalopathic episodes associated with increased serum and CSF lactate. These episodes result in progressive neurologic dysfunction manifest as gait disturbances, ataxia, dystonia, and spasticity, which in some cases may result in loss of ability to walk. Cognitive function is usually preserved, although mildly delayed development has been reported. These episodes are usually associated with infection and metabolic decompensation. Some patients may have recovery of some neurologic deficits. Belongs to the thiamine pyrophosphokinase family.
Protein type: EC 2.7.6.2; Kinase, other; Cofactor and Vitamin Metabolism - thiamine
Chromosomal Location of Human Ortholog: 7q34-q35
Cellular Component: cytosol
Molecular Function: thiamin diphosphokinase activity
Biological Process: thiamin and derivative metabolic process; thiamin diphosphate biosynthetic process
Disease: Thiamine Metabolism Dysfunction Syndrome 5 (episodic Encephalopathy Type)
Research Articles on TPK1
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Product Notes
The TPK1 tpk1 (Catalog #AAA1272691) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atggagcatg cctttacccc gttggagccc ctgctttcca ctgggaattt gaagtactgc cttgtaattc ttaatcagcc tttggacaac tattttcgtc atctttggaa caaagctctt ttaagagcct gtgccgatgg aggtgccaac cgcttatatg atatcaccga aggagagaga gaaagctttt tgcctgaatt catcaatgga gactttgatt ctattaggcc tgaagtcaga gaatactatg ctactaaggg atgtgagctc atttcaactc ctgatcaaga ccacactgac tttactaagt gccttaaaat gctccaaaag aagatagaag aaaaagactt aaaggttgat gtgatcgtga cactgggagg ccttgctggg cgttttgacc agattatggc atctgtgaat accttgttcc aagcgactca catcactcct tttccaatta taataatcca agaggaatcg ctgatctacc tgctccaacc aggaaagcac aggttgcatg tagacactgg aatggagggt gattggtgtg gccttattcc tgttggacag ccttgtagtc aggttacaac cacaggcctc aagtggaacc tcacaaatga tgtgcttgct tttggaacat tggtcagtac ttccaatacc tacgacgggt ctggtgttgt gactgtggaa actgaccacc cactcctctg gaccatggcc atcaaaagct aa. It is sometimes possible for the material contained within the vial of "TPK1, cDNA Clone" 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
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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