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 | 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 | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
extracellular | - |
Homo sapiens | - |
- |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
blood | - |
Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
blood coagulation factor XII | - |
Homo sapiens |
FXII | - |
Homo sapiens |
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 |