PHKA2

Phosphorylase kinase, alpha 2 (liver)
Identifiers
Symbols	PHKA2 ; PHK; PYK; PYKL; XLG; XLG2
External IDs	Template:OMIM5 Template:MGI HomoloGene: 246
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE PHKA2 209438 at tn.png
File:PBB GE PHKA2 209439 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Phosphorylase kinase, alpha 2 (liver), also known as PHKA2, is a human gene.

Further reading

• Davidson JJ, Ozçelik T, Hamacher C; et al. (1992). "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. PMID 1372435.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wauters JG, Bossuyt PJ, Davidson J; et al. (1992). "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. PMID 1505214.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• Willems PJ, Gerver WJ, Berger R, Fernandes J (1990). "The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients". Eur. J. Pediatr. 149 (4): 268–71. PMID 2303074.CS1 maint: Multiple names: authors list (link)
• Willems P (1990). "Families with X-linked liver glycogenosis due to phosphorylase kinase deficiency". Clin. Genet. 38 (1): 80. PMID 2387090.
• Huijing F, Fernandes J (1969). "X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency". Am. J. Hum. Genet. 21 (3): 275–84. PMID 5306139.
• Hirono H, Hayasaka K, Sato W; et al. (1995). "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. PMID 7549948.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hendrickx J, Coucke P, Dams E; et al. (1995). "Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease". Hum. Mol. Genet. 4 (1): 77–83. PMID 7711737.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• van den Berg IE, van Beurden EA, Malingré HE; et al. (1995). "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. PMID 7847371.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wüllrich A, Hamacher C, Schneider A, Kilimann MW (1993). "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. PMID 8226841.CS1 maint: Multiple names: authors list (link)
• Hendrickx J, Coucke P, Bossuyt P; et al. (1993). "X-linked liver glycogenosis: localization and isolation of a candidate gene". Hum. Mol. Genet. 2 (5): 583–9. PMID 8518797.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hendrickx J, Dams E, Coucke P; et al. (1997). "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. PMID 8733133.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Burwinkel B, Shin YS, Bakker HD; et al. (1997). "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. PMID 8733134.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Burwinkel B, Amat L, Gray RG; et al. (1998). "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. PMID 9600238.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hendrickx J, Bosshard NU, Willems P, Gitzelmann R (1999). "Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years". Eur. J. Pediatr. 157 (11): 919–23. PMID 9835437.CS1 maint: Multiple names: authors list (link)
• Hendrickx J, Lee P, Keating JP; et al. (1999). "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. PMID 10330341.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ban K, Sugiyama K, Goto K; et al. (2004). "Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency". Tohoku J. Exp. Med. 200 (1): 47–53. PMID 12862311.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Pallen MJ (2004). "Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase". Protein Sci. 12 (8): 1804–7. PMID 12876330.
• Johnson JM, Castle J, Garrett-Engele P; et al. (2004). "Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays". Science. 302 (5653): 2141–4. doi:10.1126/science.1090100. PMID 14684825.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)