Literature summary extracted from

Lombardi, A.M.; Bortoletto, E.; Scarparo, P.; Scapin, M.; Santarossa, L.; Girolami, A.
Genetic study in patients with factor XII deficiency: a report of three new mutations exon 13 (Q501STOP), exon 14 (P547L) and -13C>T promoter region in three compound heterozygotes (2008), Blood Coagul. Fibrinolysis, 19, 639-643.

Protein Variants

EC Number	Protein Variants	Comment	Organism
3.4.21.38	additional information	the -13C>T gene mutation in the promoter is associated with factor XII deficiency	Homo sapiens
3.4.21.38	P547L	the mutation is associated with factor XII deficiency	Homo sapiens
3.4.21.38	Q501T	the mutation is associated with factor XII deficiency	Homo sapiens

Organism

EC Number	Organism	UniProt	Comment	Textmining
3.4.21.38	Homo sapiens	-	-	-

Source Tissue

EC Number	Source Tissue	Comment	Organism	Textmining
3.4.21.38	blood	-	Homo sapiens	-

Synonyms

EC Number	Synonyms	Comment	Organism
3.4.21.38	factor XII	-	Homo sapiens
3.4.21.38	FXII	-	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)