PHKB cdna clone
PHKB cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]
Uniprot Description
PHKB: Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation. Defects in PHKB are the cause of glycogen storage disease type 9B (GSD9B); also known as phosphorylase kinase deficiency of liver and muscle (PKD). GSD9B is a metabolic disorder characterized by hepathomegaly, only slightly elevated transaminases and plasma lipids, clinical improvement with increasing age, and remarkably no clinical muscle involvement. Biochemical observations suggest that this mild phenotype is caused by an incomplete holoenzyme that lacks the beta subunit, but that may possess residual activity. Belongs to the phosphorylase b kinase regulatory chain family. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: Protein kinase, regulatory subunit
Chromosomal Location of Human Ortholog: 16q12-q13
Cellular Component: cytosol; phosphorylase kinase complex
Molecular Function: phosphorylase kinase activity; protein binding
Biological Process: generation of precursor metabolites and energy; glycogen catabolic process; glycogen metabolic process
Disease: Glycogen Storage Disease Ixb
Research Articles on PHKB
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Product Notes
The PHKB phkb (Catalog #AAA1274589) 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: atggcctgct cacctgatgc agtcgtctct ccgtcttccg ctttcttaag gtctggctca gtttatgaac ctcttaaaag cattaatctt ccaagacctg ataatgaaac tctctgggat aagttggacc attattacag aattgtcaag tcaacattgc tgctgtatca aagtccaact accggtctct ttcccactaa aacatgcggt ggtgaccaga aggccaagat ccaggacagc ctatactgcg ctgctggggc ctgggctttg gctcttgcat acaggcgaat tgatgacgac aagggaagga cccatgagct ggagcactca gctataaaat gcatgagagg aattctctac tgctatatgc gtcaggccga taaggtccag cagtttaagc aggatccacg cccaacaaca tgtcttcact ctgttttcaa tgtgcataca ggagatgagt tgctttccta tgaggaatat ggtcatcttc agataaatgc agtgtcactt tatctccttt accttgtgga aatgatttcc tcaggactcc agattatcta caacactgat gaggtctctt ttattcaaaa ccttgtattt tgtgtggaaa gagtttaccg tgtgcctgac tttggtgtct gggaaagagg aagcaaatat aataatggca gcacagagct acattcgagc tcggttggtt tagcaaaagc agctctagaa gcaattaatg gattcaacct ttttggcaac cagggctgtt cgtggtcagt tatatttgtg gatctcgatg ctcacaatcg caacaggcaa actttgtgct cgctgttacc cagagaatca agatcacata atacagatgc tgccctgctc ccctgcatca gttatcctgc atttgccctg gatgatgaag ttctttttag ccagacactt gataaagtgg ttagaaaatt aaaaggaaaa tatggattta aacgtttctt gagagatggg tatagaacat cattggaaga tcccaacaga tgctactaca agccagctga aattaagcta tttgatggca ttgaatgtga atttcccata tttttccttt atatgatgat tgatggagtt tttagaggca atcctaagca agtacaggaa tatcaggatc ttttgactcc agtacttcat cataccacag aaggatatcc tgttgtacca aagtactatt atgtgccagc tgactttgta gaatatgaaa aaaataaccc tggtagtcaa aaacgatttc ctagcaactg tggccgtgat ggaaaactgt ttctttgggg acaagcactt tatatcatcg caaaactcct ggctgatgaa cttattagtc ctaaagacat tgatcctgtc cagcgctatg tcccactaaa ggatcaacgt aacgtgagca tgaggttttc caatcagggc ccactggaaa atgacttggt agttcatgtg gcacttatag cagaaagcca aagacttcaa gtttttctga acacatatgg tattcaaact caaactcctc aacaagtaga acccattcag atatggcctc agcaggagct tgtgaaagct tatttgcagc tgggtatcaa tgaaaagtta ggactctctg gaaggccaga caggcccatt ggctgcctcg ggacatcaaa gatttatcgc attctaggaa agactgtggt ttgttacccg attattttcg acctaagtga tttctacatg tctcaggatg ttttcctgct gatagatgac ataaagaatg cgctgcagtt cattaaacaa tattggaaaa tgcatggacg tccacttttc cttgttctca tccgggaaga caatataaga ggtagccggt tcaaccccat attagatatg ctggcagccc ttaaaaaagg aataattgga ggagtcaaag ttcatgtgga tcgtctacag acactaatat ctggagctgt ggtagaacaa cttgatttcc tacgaatcag tgacacagaa gagcttccag aatttaagag ttttgaggaa ctagaacctc ccaaacattc aaaagtcaaa cggcaaagca gcacccctag tgctcctgaa ctgggacagc agccggatgt caacattagt gaatggaagg acaaacccac ccatgaaatt cttcaaaaac tgaatgattg cagttgtctg gctagccaag ccatcctgct gggtatactg ctcaaaagag aaggccccaa cttcatcaca aaggaaggta ccgtttctga tcacattgag agagtctata gaagagctgg cagccaaaaa ctttggtcgg ttgtacgccg tgcagcaagt cttttaagta aagtagtgga cagcctggcc ccatccatta ctaatgtttt agtgcagggc aaacaggtaa ctctgggtgc ctttgggcat gaagaagaag ttatctctaa tcctttgtct ccaagagtga ttcaaaacat catctattat aagtgtaaca cccatgatga gagggaagcg gtcattcagc aagaactggt catccatatt ggctggatca tctccaataa ccctgagtta ttcagtggca tgctgaaaat acgaatcggg tggatcatcc atgccatgga gtatgaactt cagatccgtg gcggagacaa gccagccttg gacttgtatc agctgtcacc tagtgaagtt aaacagcttc tgctggatat tctgcagcct caacagaatg gaagatgttg gctgaacagg cgtcagatcg atgggtcttt gaatagaact cccaccgggt tctatgaccg agtgtggcag attctggagc gcacgcccaa tgggatcatt gttgctggga agcatttgcc tcagcaacca accctgtcag atatgaccat gtatgagatg aatttctctc tccttgttga agacacgttg ggaaatattg accagccaca gtacagacag atcgttgtag agttacttat ggttgtatcc attgtactgg aaagaaaccc cgagctagaa tttcaagaca aagtagatct agacagactg gtcaaagaag catttaatga atttcaaaaa gatcagagtc ggctaaagga aattgaaaaa caagatgaca tgacttcctt ttacaacact cctcccctgg gaaaaagagg aacatgcagc tatttgacaa aggcggtgat gaatctgctg ctggaaggag aagtcaagcc aaacaatgat gacccgtgtc tgattagcta g. It is sometimes possible for the material contained within the vial of "PHKB, 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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