Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.4.21.7 (plasmin)
 9,023 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The accumulation of the homozygous plasminogen (PLG) variant A3 in 4 siblings of a family led to the detection of 5 cases of apparent inverse homozygosity of PLG phenotypes which seemed to exclude paternity. Determination of 22 blood group markers and HLA typing, but under exclusion of PLG phenotypes, confirmed paternity in all cases (biostatistical probability of paternity greater than 99.9985%). Comparing the results of 'Western blots' with functional-caseinolytic phenotyping, the existence of inactive plasmin, as described earlier, could be excluded. Besides inverse homozygosity the assumption of a silent allele was confirmed by reduction of PLG antigenic levels and functional activities to approximately 50% of normal range. The PLG phenotype A in 1 individual with anamnestic thrombosis, reduced values of PLG antigen, and reduced functional activity, although in accordance with Mendelian inheritance, was also considered as indicative for PLG hemizygosity.
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PMID:Plasminogen hemizygosity. Detection of a silent allele in 7 members of a family by determination of plasminogen phenotypes, antigenic levels, and functional activity. 338 18

Granzyme A (GzmA) belongs to a family of trypsin-like serine proteases localized in cytoplasmic granules of activated lymphocytes and natural killer (NK) cells. In contrast to the related granzyme B (GzmB), GzmA forms a stable disulfide-linked homodimer and triggers target-cell death in a caspase-independent way. Limited proteolysis of a high-molecular-mass complex containing SET (also named putative HLA-associated protein II or PHAPII), PHAPI (pp32, leucine-rich acidic nuclear protein) and HMG2 by GzmA liberates NM23-H1, a Mg2+-dependent DNase that causes single-stranded breaks in nuclear DNA. By analyzing the dimeric GzmA structure at a resolution of 2.5 A, we determined the substrate-binding constraints and selective advantages of the two domains arranged as a unique functional tandem. The active sites of the two subunits point in opposite directions and the nearby noncatalytic surfaces can function as exosites, presenting substrates to the active site region of the adjacent partner in a manner analogous to staphylokinase or streptokinase, which present plasminogen to the cofactor-plasmin and cofactor-plasminogen complexes.
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PMID:Crystal structure of the apoptosis-inducing human granzyme A dimer. 1281 70