Literature summary for 3.4.21.42 extracted from

Kapferer-Seebacher, I.; Pepin, M.; Werner, R.; Aitman, T.J.; Nordgren, A.; Stoiber, H.; Thielens, N.; Gaboriaud, C.; Amberger, A.; Schossig, A.; Gruber, R.; Giunta, C.; Bamshad, M.; Bjoerck, E.; Chen, C.; Chitayat, D.; Dorschner, M.; Schmitt-Egenolf, M.; Hale, C.J.; Hanna, D.; Hennies, H.C.; Heiss-Kisielewsky, I.
Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement (2016), Am. J. Hum. Genet., 99, 1005-1014 .

Protein Variants

Protein Variants	Comment	Organism
C294R	the mutation is associated with periodontal Ehlers-Danlos syndrome	Homo sapiens
V316Del	the mutation is associated with periodontal Ehlers-Danlos syndrome	Homo sapiens

Metals/Ions	Comment	Organism	Structure
Ca2+	dependent on	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	P09871	-	-

Synonyms	Comment	Organism
C1s	-	Homo sapiens

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Release 2023.1 (January 2023)