Literature summary for 3.4.21.112 extracted from

Schweitzer, G.; Gan, C.; Bucelli, R.; Wegner, D.; Schmidt, R.; Shinawi, M.; Finck, B.; Brookheart, R.
A mutation in Site-1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema (2019), Mol. Genet. Genomic Med., 2019, e733 .

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Application

Application	Comment	Organism
medicine	a female patient with a heterozygous missense mutation in the transmembrane domain of S1P (Pro1003Ser) displays episodic, activity-induced, focal myoedema and myalgias with hyperCKemia. The clinical phenotype includes gastrointestinal hypomotility, ocular migraines, and polycystic ovary syndrome. The mutation leads to increased activation of protein response and lipid and cholesterol regulatory pathways and localization of S1P Pro1003Ser in the Golgi	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
P1003S	natural mutation identified in a female patient. The mutant protein is able to complement lipid and cholesterol biosynthetic capacities in cells that lack S1P and is abundant in both the ER and the Golgi	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

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Release 2023.1 (January 2023)