Gene Review:
PHKG2 - phosphorylase kinase, gamma 2 (testis)
Homo sapiens
Synonyms:
PHK-gamma-LT, PHK-gamma-T, PSK-C3, Phosphorylase b kinase gamma catalytic chain, liver/testis isoform, Phosphorylase kinase subunit gamma-2
- Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. Burwinkel, B., Shiomi, S., Al Zaben, A., Kilimann, M.W. Hum. Mol. Genet. (1998)
- Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. Burwinkel, B., Rootwelt, T., Kvittingen, E.A., Chakraborty, P.K., Kilimann, M.W. Pediatr. Res. (2003)
- Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. Maichele, A.J., Burwinkel, B., Maire, I., Søvik, O., Kilimann, M.W. Nat. Genet. (1996)
- 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. Whitmore, S.A., Apostolou, S., Lane, S., Nancarrow, J.K., Phillips, H.A., Richards, R.I., Sutherland, G.R., Callen, D.F. Genomics (1994)
- Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis. Hanks, S.K. Mol. Endocrinol. (1989)