PHKA2

From Wikipedia, the free encyclopedia

Phosphorylase kinase, alpha 2 (liver)

Identifiers

PHKA2; PHK; PYK; PYKL; XLG; XLG2

External IDs

Gene ontology
Molecular Function:	• phosphorylase kinase activity • calmodulin binding
Cellular Component:	• phosphorylase kinase complex • membrane
Biological Process:	• carbohydrate metabolic process • glycogen metabolic process • generation of precursor metabolites and energy • protein modification process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000292 (mRNA)
NP_000283 (protein)

NM_172783 (mRNA)
NP_766371 (protein)

Location

Chr X: 18.82 - 18.91 Mb

Chr X: 155.85 - 155.94 Mb

Pubmed search

[1]

[2]

Phosphorylase kinase, alpha 2 (liver), also known as PHKA2, is a human gene.^[1]

[edit] References

^ Entrez Gene: PHKA2 phosphorylase kinase, alpha 2 (liver).

[edit] 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.