PHKG2
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Phosphorylase b kinase gamma catalytic chain, testis/liver isoform is an enzyme that in humans is encoded by the PHKG2 gene.[1][2][3]
References
- ↑ Hanks SK (Mar 1989). "Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis". Mol Endocrinol. 3 (1): 110–6. doi:10.1210/mend-3-1-110. PMID 2915644.
- ↑ Whitmore SA, Apostolou S, Lane S, Nancarrow JK, Phillips HA, Richards RI, Sutherland GR, Callen DF (Aug 1994). "Isolation and characterization of transcribed sequences from a chromosome 16 hn-cDNA library and the physical mapping of genes and transcribed sequences using a high-resolution somatic cell panel of human chromosome 16". Genomics. 20 (2): 169–75. doi:10.1006/geno.1994.1150. PMID 8020963.
- ↑ "Entrez Gene: PHKG2 phosphorylase kinase, gamma 2 (testis)".
Further reading
- Hanks SK (1987). "Homology probing: identification of cDNA clones encoding members of the protein-serine kinase family". Proc. Natl. Acad. Sci. U.S.A. 84 (2): 388–92. doi:10.1073/pnas.84.2.388. PMC 304212. PMID 2948189.
- Søvik O, deBarsy T, Maehle B (1983). "Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance". Eur. J. Pediatr. 139 (3): 210. doi:10.1007/BF01377363. PMID 6962066.
- Huang CY, Yuan CJ, Livanova NB, Graves DJ (1994). "Expression, purification, characterization, and deletion mutations of phosphorylase kinase gamma subunit: identification of an inhibitory domain in the gamma subunit". Mol. Cell. Biochem. 127-128: 7–18. doi:10.1007/BF01076753. PMID 7935363.
- Maichele AJ, Burwinkel B, Maire I, et al. (1996). "Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans". Nat. Genet. 14 (3): 337–40. doi:10.1038/ng1196-337. PMID 8896567.
- Lowe ED, Noble ME, Skamnaki VT, et al. (1998). "The crystal structure of a phosphorylase kinase peptide substrate complex: kinase substrate recognition". EMBO J. 16 (22): 6646–58. doi:10.1093/emboj/16.22.6646. PMC 1170269. PMID 9362479.
- Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW (1998). "Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis". Hum. Mol. Genet. 7 (1): 149–54. doi:10.1093/hmg/7.1.149. PMID 9384616.
- Burwinkel B, Tanner MS, Kilimann MW (2000). "Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R)". J. Med. Genet. 37 (5): 376–7. doi:10.1136/jmg.37.5.376. PMC 1734590. PMID 10905889.
- 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. PMC 139241. PMID 12477932.
- Burwinkel B, Rootwelt T, Kvittingen EA, et al. (2004). "Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene". Pediatr. Res. 54 (6): 834–9. doi:10.1203/01.PDR.0000088069.09275.10. PMID 12930917.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Beauchamp NJ, Dalton A, Ramaswami U, et al. (2007). "Glycogen storage disease type IX: High variability in clinical phenotype". Mol. Genet. Metab. 92 (1–2): 88–99. doi:10.1016/j.ymgme.2007.06.007. PMID 17689125.
External links
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