Literature summary for 3.4.21.38 extracted from

Suzuki, K.; Murai, K.; Suwabe, A.; Ishida, Y.
Factor XII Ofunato: Lys346Asn mutation associated with blood coagulation factor XII deficiency causes impaired secretion through a proteasome-mediated degradation (2010), Thromb. Res., 125, 438-443.

Search for more literature for 3.4.21.38

Cloned(Commentary)

Cloned (Comment)	Organism
genotyping, determination and analysis of mutant K346N gene sequence, transient expression of wild-type and K346N mutant FXII in CHO-K1 cells. Quantitative RT-PCR FXII mRNA expression analysis	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
K346N	the mutation, a G to C point mutation at nucleotide 9845, causes a replacement in the catalytic domain, and congenital FXII deficiency as a rare coagulation disease and an autosomal recessive trait, designated as factor XII Ofunato. The mutant shows a lower level of accumulation in the cells and reduced secretion in culture medium.compared to the wild-type. The mutant shows unaltered FXII mRNA levels but increased degenration of the mutant mRNA in the pre-Golgi compartment of transfected CHO-K1 cells involving the proteasome, overview	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
extracellular	-	Homo sapiens	-	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
blood	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
blood coagulation factor XII	-	Homo sapiens
FXII	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	congenital blood coagulation factor XII deficiency is a rare coagulation disease and an autosomal recessive trait. The mutation K346N is found in the FXII gene of a patient with FXII deficiency, designated as factor XII Ofunato	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)