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Literature summary for 2.7.11.19 extracted from

  • Hendrickx, J.; Lee, P.; Keating, J.P.; Carton, D.; Sardharwalla, I.B.; Tuchman, M.; Baussan, C.; Willems, P.J.
    Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II (1999), Am. J. Hum. Genet., 64, 1541-15499.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 2.7.11.19

Protein Variants

Protein Variants Comment Organism
DELTA189-190 naturally occurring mutation in XLG II patient, increased activity blood cells Homo sapiens
E1125K naturally occurring mutation in XLG I patient, low activity in blood cells Homo sapiens
Q1169X naturally occurring mutation in XLG I patient, CAG codon is replaced by a TAG stop codon, very low activity in blood cells Homo sapiens
R295H naturally occurring mutation in XLG I and XLG II patients, very low activity in blood cells and liver Homo sapiens

Metals/Ions

Metals/Ions Comment Organism Structure
Ca2+ required, interacts with the delta subunit Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens plays a regulatory role in a cascade of enzymatic reactions controlling glycogen breakdown ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens P46019 liver isoform, alpha subunit; patients with XLG I, with a deficiency in phosphorylase kinase activity in peripheral blood cells and liver; and with XLG II, with normal in vitro PHK activity in peripheral blood cells and with variable activity in liver
-

Source Tissue

Source Tissue Comment Organism Textmining
blood peripheral blood cells Homo sapiens
-
liver
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information plays a regulatory role in a cascade of enzymatic reactions controlling glycogen breakdown Homo sapiens ?
-
 ?

Subunits

Subunits Comment Organism
hexadecamer 4 * alpha + 4 * beta + 4 * gamma + 4 * delta Homo sapiens

Synonyms

Synonyms Comment Organism
EC 2.7.1.38 formerly, transferred to EC 2.7.11.19 Homo sapiens
PhK
-
 Homo sapiens