Literature summary for 2.4.1.11 extracted from

Cameron, J.M.; Levandovskiy, V.; MacKay, N.; Utgikar, R.; Ackerley, C.; Chiasson, D.; Halliday, W.; Raiman, J.; Robinson, B.H.
Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts (2009), Mol. Genet. Metab., 98, 378-382.

Search for more literature for 2.4.1.11

Application

Application	Comment	Organism
medicine	patient with muscle-specific glycogen synthase deficiency due to homozygous two base pair deletion in exon 2, c.162-163delAG. Mutation is predicted to result in a protein frameshift that alters the amino acid sequence after the mutation and terminates prematurely. Patient presents with abnormal mitochondrial ultrastructure and pre-ragged red fibres, predominance of type I oxidative fibres in the muscle and depletion of glycogen stores	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	identification of homozygous two base pair deletion in exon 2, c.162-163delAG resulting in muscle-specific glycogen synthase deficiency. Mutation is predicted to result in a protein frameshift that alters the amino acid sequence after the mutation and terminates prematurely. Patient presents with abnormal mitochondrial ultrastructure and pre-ragged red fibres, predominance of type I oxidative fibres in the muscle and depletion of glycogen stores	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P13807	muscle-specific glycogen synthase GYS1	-

Synonyms

Synonyms	Comment	Organism
GYS1	-	Homo sapiens

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)