PHKA2 explained
Phosphorylase b kinase regulatory subunit alpha, liver isoform is an enzyme that in humans is encoded by the PHKA2 gene.[1] [2]
Further reading
- Davidson JJ, Ozçelik T, Hamacher C, etal . 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 . 1372435 . 10.1073/pnas.89.6.2096 . 48603 . 1992PNAS...89.2096D . free .
- Wauters JG, Bossuyt PJ, Davidson J, etal . 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 . 1505214 . 10.1159/000133334 .
- Daube H, Billich A, Mann K, Schramm HJ . Cleavage of phosphorylase kinase and calcium-free calmodulin by HIV-1 protease. . Biochem. Biophys. Res. Commun. . 178 . 3 . 892–8 . 1991 . 1872871 . 10.1016/0006-291X(91)90975-D .
- Willems PJ, Gerver WJ, Berger R, Fernandes J . 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 . 2303074 . 10.1007/BF02106291 . 7838940 .
- Huijing F, Fernandes J . X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency. . Am. J. Hum. Genet. . 21 . 3 . 275–84 . 1969 . 5306139 . 1706412 .
- Hirono H, Hayasaka K, Sato W, etal . 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 . 7549948 .
- Hendrickx J, Coucke P, Dams E, etal . Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease. . Hum. Mol. Genet. . 4 . 1 . 77–83 . 1995 . 7711737 . 10.1093/hmg/4.1.77.
- van den Berg IE, van Beurden EA, Malingré HE, etal . 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 . 7847371 . 1801119 .
- Wüllrich A, Hamacher C, Schneider A, Kilimann MW . 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 . 10.1016/S0021-9258(19)49449-0 . 8226841 . free .
- Hendrickx J, Coucke P, Bossuyt P, etal . X-linked liver glycogenosis: localization and isolation of a candidate gene. . Hum. Mol. Genet. . 2 . 5 . 583–9 . 1993 . 8518797 . 10.1093/hmg/2.5.583 .
- Hendrickx J, Dams E, Coucke P, etal . 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 . 8733133 . 10.1093/hmg/5.5.649 . free .
- Burwinkel B, Shin YS, Bakker HD, etal . 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 . 8733134 . 10.1093/hmg/5.5.653 . free .
- Burwinkel B, Amat L, Gray RG, etal . 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 . 9600238 . 10.1007/s004390050715 . 12630510 .
- Hendrickx J, Bosshard NU, Willems P, Gitzelmann R . 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 . 9835437 . 10.1007/s004310050967 . 30403612 .
- Hendrickx J, Lee P, Keating JP, etal . 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 . 10330341 . 10.1086/302399 . 1377897 .
- Strausberg RL, Feingold EA, Grouse LH, etal . 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 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
- Ban K, Sugiyama K, Goto K, etal . Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency. . Tohoku J. Exp. Med. . 200 . 1 . 47–53 . 2004 . 12862311 . 10.1620/tjem.200.47 . free .
- Pallen MJ . Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase. . Protein Sci. . 12 . 8 . 1804–7 . 2004 . 12876330 . 10.1110/ps.0371103 . 2323967 .
- Johnson JM, Castle J, Garrett-Engele P, etal . Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays. . Science . 302 . 5653 . 2141–4 . 2004 . 14684825 . 10.1126/science.1090100 . 2003Sci...302.2141J . 10007258 .
External links
Notes and References
- Willems P . Families with X-linked liver glycogenosis due to phosphorylase kinase deficiency . Clin Genet . 38 . 1 . 80 . Sep 1990 . 2387090 . 10.1111/j.1399-0004.1990.tb03552.x . 86685815 .
- Web site: Entrez Gene: PHKA2 phosphorylase kinase, alpha 2 (liver).