SLC6A8 cdna clone
SLC6A8 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Uniprot Description
SLC6A8: Required for the uptake of creatine in muscles and brain. Defects in SLC6A8 are the cause of X-linked creatine deficiency syndrome (XL-CDS). XL-CDS causes developmental delay, hypotonia, mental retardation, seizures, short stature and midface hypoplasia. Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A8 subfamily. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Transporter; Motility/polarity/chemotaxis; Membrane protein, multi-pass; Transporter, SLC family
Chromosomal Location of Human Ortholog: Xq28
Cellular Component: integral to membrane; integral to plasma membrane; plasma membrane
Molecular Function: creatine:sodium symporter activity
Biological Process: creatine metabolic process; creatine transport; muscle contraction; transport
Disease: Cerebral Creatine Deficiency Syndrome 1
Research Articles on SLC6A8
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Product Notes
The SLC6A8 slc6a8 (Catalog #AAA1268775) 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: atggcgaaga agagcgccga gaacggcatc tatagcgtgt ccggcgacga gaagaagggc cccctcatcg cgcccgggcc cgacggggcc ccggccaagg gcgacggccc cgtgggcctg gggacacccg gcggccgcct ggccgtgccg ccgcgcgaga cctggacgcg ccagatggac ttcatcatgt cgtgcgtggg cttcgccgtg ggcttgggca acgtgtggcg cttcccctac ctgtgctaca agaacggcgg aggtgtgttc cttattccct acgtcctgat cgccctggtt ggaggaatcc ccattttctt cttagagatc tcgctgggcc agttcatgaa ggccggcagc atcaatgtct ggaacatctg tcccctgttc aaaggcctgg gctacgcctc catggtgatc gtcttctact gcaacaccta ctacatcatg gtgctggcct ggggcttcta ttacctggtc aagtccttta ccaccacgct gccctgggcc acatgtggcc acacctggaa cactcccgac tgcgtggaga tcttccgcca tgaagactgt gccaatgcca gcctggccaa cctcacctgt gaccagcttg ctgaccgccg gtcccctgtc atcgagttct gggagaacaa agtcttgagg ctgtctgggg gactggaggt gccaggggcc ctcaactggg aggtgaccct ttgtctgctg gcctgctggg tgctggtcta cttctgtgtc tggaaggggg tcaaatccac gggaaagatc gtgtacttca ctgctacatt cccctacgtg gtcctggtcg tgctgctggt gcgtggagtg ctgctgcctg gcgccctgga tggcatcatt tactatctca agcctgactg gtcaaagctg gggtcccctc aggtgtggat agatgcgggg acccagattt tcttttctta cgccattggc ctgggggccc tcacagccct gggcagctac aaccgcttca acaacaactg ctacaaggac gccatcatcc tggctctcat caacagtggg accagcttct ttgctggctt cgtggtcttc tccatcctgg gcttcatggc tgcagagcag ggcgtgcaca tctccaaggt ggcagagtca gggccgggcc tggccttcat cgcctacccg cgggctgtca cgctgatgcc agtggcccca ctctgggctg ccctgttctt cttcatgctg ttgctgcttg gtctcgacag ccagtttgta ggtgtggagg gcttcatcac cggcctcctc gacctcctcc cggcctccta ctacttccgt ttccaaaggg agatctctgt ggccctctgt tgtgccctct gctttgtcat cgatctctcc atggtgactg atggcgggat gtacgtcttc cagctgtttg actactactc ggccagcggc accaccctgc tctggcaggc cttttgggag tgcgtggtgg tggcctgggt gtacggagct gaccgcttca tggacgacat tgcctgtatg atcgggtacc gaccttgccc ctggatgaaa tggtgctggt ccttcttcac cccgctggtc tgcatgggca tcttcatctt caacgttgtg tactacgagc cgctggtcta caacaacacc tacgtgtacc cgtggtgggg tgaggccatg ggctgggcct tcgccctgtc ctccatgctg tgcgtgccgc tgcacctcct gggctgcctc ctcagggcca agggcaccat ggctgagcgc tggcagcacc tgacccagcc catctggggc ctccaccact tggagtaccg agctcaggac gcagatgtca ggggcctgac caccctgacc ccagtgtccg agagcagcaa ggtcgtcgtg gtggagagtg tcatgtga. It is sometimes possible for the material contained within the vial of "SLC6A8, 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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