PHKB
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(Redirected from Phosphorylase B kinase)
| Phosphorylase kinase, beta
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| Identifiers | ||||||||||||||
| Symbol(s) | PHKB; DKFZp781E15103; FLJ41698 | |||||||||||||
| External IDs | OMIM: 172490 MGI: 97578 Homologene: 247 | |||||||||||||
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| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 5257 | 102093 | ||||||||||||
| Ensembl | ENSG00000102893 | ENSMUSG00000036879 | ||||||||||||
| Uniprot | Q93100 | Q3U6H6 | ||||||||||||
| Refseq | NM_000293 (mRNA) NP_000284 (protein) | NM_199446 (mRNA) NP_955517 (protein) | ||||||||||||
| Location | Chr 16: 46.05 - 46.29 Mb | Chr 8: 88.73 - 88.95 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
Phosphorylase kinase, beta, also known as PHKB, is a human gene.[1]
References
Further reading
- Brushia RJ, Walsh DA (1999). "Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure.". Front. Biosci. 4: D618-41. PMID 10487978.
- Daube H, Billich A, Mann K, Schramm HJ (1991). "Cleavage of phosphorylase kinase and calcium-free calmodulin by HIV-1 protease.". Biochem. Biophys. Res. Commun. 178 (3): 892-8. PMID 1872871.
- Francke U, Darras BT, Zander NF, Kilimann MW (1989). "Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13.". Am. J. Hum. Genet. 45 (2): 276-82. PMID 2757032.
- Wüllrich-Schmoll A, Kilimann MW (1996). "Structure of the human gene encoding the phosphorylase kinase beta subunit (PHKB).". Eur. J. Biochem. 238 (2): 374-80. PMID 8681948.
- Burwinkel B, Maichele AJ, Aagenaes O, et al. (1997). "Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB).". Hum. Mol. Genet. 6 (7): 1109-15. PMID 9215682.
- van den Berg IE, van Beurden EA, de Klerk JB, et al. (1997). "Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB).". Am. J. Hum. Genet. 61 (3): 539-46. PMID 9326319.
- Burwinkel B, Moses SW, Kilimann MW (1998). "Phosphorylase-kinase-deficient liver glycogenosis with an unusual biochemical phenotype in blood cells associated with a missense mutation in the beta subunit gene (PHKB).". Hum. Genet. 101 (2): 170-4. PMID 9402963.
- Burwinkel B, Kilimann MW (1998). "Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease.". J. Mol. Biol. 277 (3): 513-7. doi:10.1006/jmbi.1998.1641. PMID 9533876.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899-903. doi:10.1073/pnas.242603899. PMID 12477932.
- Burwinkel B, Hu B, Schroers A, et al. (2004). "Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.". Eur. J. Hum. Genet. 11 (7): 516-26. doi:10.1038/sj.ejhg.5200996. PMID 12825073.
- Pallen MJ (2004). "Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase.". Protein Sci. 12 (8): 1804-7. PMID 12876330.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:10.1101/gr.2596504. PMID 15489334.
- Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173-8. doi:10.1038/nature04209. PMID 16189514.
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Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
