Biology:PHKB

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

Phosphorylase b kinase regulatory subunit beta is an enzyme that in humans is encoded by the PHKB gene.

Further reading

• "Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure.". Front. Biosci. 4 (1–3): D618–41. 1999. doi:10.2741/Brushia. PMID 10487978. 
• "Cleavage of phosphorylase kinase and calcium-free calmodulin by HIV-1 protease.". Biochem. Biophys. Res. Commun. 178 (3): 892–8. 1991. doi:10.1016/0006-291X(91)90975-D. PMID 1872871. 
• "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. 1989. PMID 2757032. 
• "Structure of the human gene encoding the phosphorylase kinase beta subunit (PHKB).". Eur. J. Biochem. 238 (2): 374–80. 1996. doi:10.1111/j.1432-1033.1996.0374z.x. PMID 8681948. 
• "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. 1997. doi:10.1093/hmg/6.7.1109. PMID 9215682. 
• "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. 1997. doi:10.1086/515502. PMID 9326319. 
• "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. 1998. doi:10.1007/s004390050608. PMID 9402963. 
• "Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease.". J. Mol. Biol. 277 (3): 513–7. 1998. doi:10.1006/jmbi.1998.1641. PMID 9533876. 
• "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. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M. 
• "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. 2004. 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. doi:10.1110/ps.0371103. PMID 12876330. 
• "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334. 
• "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. 2005. doi:10.1038/nature04209. PMID 16189514. Bibcode: 2005Natur.437.1173R. 

External links

• GeneReviews/NCBI/NIH/UW entry on Phosphorylase Kinase Deficiency, Glycogen Storage Disease Type IX