Biology:PHKA2

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

Generic protein structure example

Phosphorylase b kinase regulatory subunit alpha, liver isoform is an enzyme that in humans is encoded by the PHKA2 gene.

Further reading

• "cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.". Proc. Natl. Acad. Sci. U.S.A. 89 (6): 2096–100. 1992. doi:10.1073/pnas.89.6.2096. PMID 1372435. Bibcode: 1992PNAS...89.2096D. 
• "Regional mapping of a liver alpha-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp.". Cytogenet. Cell Genet. 60 (3–4): 194–6. 1992. doi:10.1159/000133334. PMID 1505214. 
• "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. 
• "The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients.". Eur. J. Pediatr. 149 (4): 268–71. 1990. doi:10.1007/BF02106291. PMID 2303074. 
• "X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency.". Am. J. Hum. Genet. 21 (3): 275–84. 1969. PMID 5306139. 
• "Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency.". Biochem. Mol. Biol. Int. 36 (3): 505–11. 1995. PMID 7549948. 
• "Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.". Hum. Mol. Genet. 4 (1): 77–83. 1995. doi:10.1093/hmg/4.1.77. PMID 7711737. 
• "X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit.". Am. J. Hum. Genet. 56 (2): 381–7. 1995. PMID 7847371. 
• "The multiphosphorylation domain of the phosphorylase kinase alpha M and alpha L subunits is a hotspot of differential mRNA processing and of molecular evolution.". J. Biol. Chem. 268 (31): 23208–14. 1993. doi:10.1016/S0021-9258(19)49449-0. PMID 8226841. 
• "X-linked liver glycogenosis: localization and isolation of a candidate gene.". Hum. Mol. Genet. 2 (5): 583–9. 1993. doi:10.1093/hmg/2.5.583. PMID 8518797. 
• "X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.". Hum. Mol. Genet. 5 (5): 649–52. 1997. doi:10.1093/hmg/5.5.649. PMID 8733133. 
• "Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).". Hum. Mol. Genet. 5 (5): 653–8. 1997. doi:10.1093/hmg/5.5.653. PMID 8733134. 
• "Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene.". Hum. Genet. 102 (4): 423–9. 1998. doi:10.1007/s004390050715. PMID 9600238. 
• "Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years.". Eur. J. Pediatr. 157 (11): 919–23. 1999. doi:10.1007/s004310050967. PMID 9835437. 
• "Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II.". Am. J. Hum. Genet. 64 (6): 1541–9. 1999. doi:10.1086/302399. PMID 10330341. 
• "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. 
• "Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency.". Tohoku J. Exp. Med. 200 (1): 47–53. 2004. doi:10.1620/tjem.200.47. PMID 12862311. 
• 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. 
• "Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays.". Science 302 (5653): 2141–4. 2004. doi:10.1126/science.1090100. PMID 14684825. Bibcode: 2003Sci...302.2141J. 

External links

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