Sequence in raw or FASTA format:
Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA.
|RefSeq Version||NM_000294.2, 289063420|
|Organism||Homo sapiens (human)|
|Definition||Homo sapiens phosphorylase kinase, gamma 2 (testis) (PHKG2), transcript variant 1, mRNA.|
|Product||phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform 1|
Summary: Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010].
Transcript Variant: This variant (1) encodes the longer isoform (1).
Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
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|Title||Glycogen storage disease type IX: High variability in clinical phenotype .|
|Author||Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, Kolho KL, Raiman J, Walter J, Treacy E, Tanner S and Sharrard M.|
|Journal||Mol. Genet. Metab. 92 (1-2), 88-99 (2007)|
|Title||Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene .|
|Author||Burwinkel B, Rootwelt T, Kvittingen EA, Chakraborty PK and Kilimann MW.|
|Journal||Pediatr. Res. 54 (6), 834-839 (2003)|
|Title||Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R) .|
|Author||Burwinkel,B., Tanner,M.S. and Kilimann,M.W.|
|Journal||J. Med. Genet. 37 (5), 376-377 (2000)|
|Title||Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure .|
|Author||Brushia RJ and Walsh DA.|
|Journal||Front. Biosci. 4, D618-D641 (1999)|
|Title||Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis .|
|Author||Burwinkel B, Shiomi S, Al Zaben A and Kilimann MW.|
|Journal||Hum. Mol. Genet. 7 (1), 149-154 (1998)|
|Title||Expression, purification, characterization, and deletion mutations of phosphorylase kinase gamma subunit: identification of an inhibitory domain in the gamma subunit .|
|Author||Huang CY, Yuan CJ, Livanova NB and Graves DJ.|
|Journal||Mol. Cell. Biochem. 127-128, 7-18 (1993)|
|Title||Phosphorylase Kinase Deficiency .|
|Author||Goldstein,J., Austin,S., Kishnani,P. and Bali,D.|
|Journal||(in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)|
|Title||Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis .|
|Journal||Mol. Endocrinol. 3 (1), 110-116 (1989)|
|Title||Homology probing: identification of cDNA clones encoding members of the protein-serine kinase family .|
|Journal||Proc. Natl. Acad. Sci. U.S.A. 84 (2), 388-392 (1987)|
|Title||Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance .|
|Author||Sovik,O., deBarsy,T. and Maehle,B.|
|Journal||Eur. J. Pediatr. 139 (3), 210 (1982)|
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