factor XII Mie-1, human

Preferred Label : factor XII Mie-1, human;

MeSH note : mutation FXII Mie-1 (introduction of Cys486) results in the reduced secretion of FXII protein in a Japanese family; a homozygous substitution of G to C at 10587 (cDNA position 1458) in the FXII gene results in a Trp to Cys substitution in the catalytic domain; reduced secretion of FXII protein was due to incorrect folding caused by the introduction of Cys486;

MeSH synonym : FXII Mie-1, human;

Is substance : O;

Details

Origin ID

C483704;

UMLS CUI

C1450279;

MeSH indexing information
- factor XII deficiency [MeSH Descriptor]
MeSH term(s) associated for indexing
- factor XII [MeSH Descriptor]
Record concept(s)
- factor XII Mie-1, human [MeSH concept]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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