Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.4.21.4 (trypsin)
 42,187 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The discovery of a natural Gerbich antigen (anti-Ge2) in the serum of a propositus prompted us to study his red blood cells (RBCs) by using monoclonal anti-bodies (mAbs) directed against glycophorin (GP) C and GPD. An mAb directed against the Ge4 antigen (mAb NaM10-7G11) agglutinated both untreated and trypsin-treated cells, demonstrating the expression of a trypsin-resistant GPC (namely, GPC of the Gerbich type: GPCGe). Surprisingly, an anti-Ge3 antibody (mAb NaM19-3C4) agglutinated untreated cells, showing that they also express the Ge3 antigen that may be carried by normal GPC and CPD or by the abnormal GPC of the Yussef (Yus) type (GPCYus). Immunoblotting analysis performed with an mAb directed against the C-terminal portion of GPC showed that the propositus' RBCs do not contain normal GPC and GPD but both GPCGe and GPCYus. Analysis of RBCs from the family demonstrated that, like the propositus, 2 of the 3 sisters had inherited both the GYPCGe and the GYPCYus alleles from the parents, who carried either the GYPCGe or the GYPCYus allele. The third sister had inherited the normal GYPC alleles from her parents, whereas the child of the propositus had inherited the GYPCGe allele. Interestingly, natural anti-Ge2 antibodies were identified in the serum of 2 of the 3 Ge-negative individuals.
 ...
PMID:Inheritance of abnormal glycophorin C of the Gerbich and Yussef type in a French family. 880 69