Literature summary for 2.7.2.3 extracted from

Svaasand, E.K.; Aasly, J.; Landsem, V.M.; Klungland, H.
Altered expression of PGK1 in a family with phosphoglycerate kinase deficiency (2007), Muscle Nerve, 36, 679-684.

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Application

Application	Comment	Organism
medicine	the X-linked recessive disease phosphoglycerate kinase deficiency is caused by altered expression of the PGK1 enzyme, which causes muscle stiffness, hemolytic anemia, and mental retardation. The PGK1 gene is charaterized in a family of two brothers, two sisters, and their parents. A single mutation in exon 6, which is associated with the pattern of inheritance of PGK1 deficiency, is observed. This silent G213G mutation is localized to the conserved exon-intron boundary. A method for quantification of PGK1 mRNA is developed. A marked reduction in PGK1 mRNA is demonstrated in both brothers with the disease. A smaller decrease in PGK1 expression is observed in one sister with symptoms of PGK deficiency and in her mother. Only the normal PGK1 allele is expressed in the two heterozygous women. Whereas most known PGK1 mutations cause amino acid alterations, this study indicates that inhibition of the transcription mechanism is the cause of PGK deficiency	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P00558	-	-

Synonyms

Synonyms	Comment	Organism
PGK1	-	Homo sapiens

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Release 2023.1 (January 2023)