Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.6.1.44 (AGT)
770 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Complement component C7 plays an important role in the formation of the membrane attack complex of the complement system. Here we describe a novel polymorphism of human C7, namely a nucleotide sequence polymorphism changing codon 367 from AGT (encoding Ser) to ACT (encoding Thr). Using the polymerase chain reaction, the polymorphism is easily detectable either as a MaeIII restriction fragment length polymorphism or by single-strand conformation analysis. The two alleles are both very common, probably in all major races.
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PMID:A common Ser/Thr polymorphism in the perforin-homologous region of human complement component C7. 786 81