| kidney, polycystic, autosomal dominant | A genetic disorder with autosomal dominant inheritance characterised by multiple cysts in both kidneys and progressive deterioration of renal function. It is usually caused by a mutant gene at the pkd1 locus on the short arm of chromosome 16, though mutations elsewhere in the genome can also cause the disease. The age of onset of symptoms varies widely. (12 Dec 1998) |
|---|---|
| kidney, polycystic, autosomal recessive | Rare genetic disorder with autosomal recessive inheritance characterised by multiple cysts in both kidneys and associated hepatic lesions. Serious manifestations are usually present at birth and there is high perinatal mortality. (12 Dec 1998) |
| acceptor site | The ribosomal binding site for the aminoacyl-tRNA during protein synthesis. (05 Mar 2000) |
| acceptor splicing site | Boundary between the right end of an intron and the left end of the adjacent exon. Synonym: acceptor splicing site. (05 Mar 2000) |
| active site | <chemistry> A specific region of an enzyme where a substrate binds and catalysis takes place (binding site). (06 May 1997) |
| allosteric site | A specific site on a multi-subunit enzyme or other protein that is not the substrate binding site, but that when reversibly bound by an effector, induces a conformational change in the protein, altering its catalytic or binding properties. (12 Dec 1998) |
| amidation site | <molecular biology> A C terminus consensus sequence, required for C terminus amidation of peptides. Consensus is glycine, followed by 2 basic amino acids (arg or lys). (18 Nov 1997) |
| antibody combining site | <immunology> In immune network theory, an idiotope, an antigenic site of an antibody that is responsible for that antibody binding to an antigenic determinant (epitope). Also used of the site on a ligand molecule to which a cell surface receptor binds. (18 Nov 1997) |
| antigen-binding site | <immunology> In immune network theory, an idiotope, an antigenic site of an antibody that is responsible for that antibody binding to an antigenic determinant (epitope). Also used of the site on a ligand molecule to which a cell surface receptor binds. (18 Nov 1997) |
| antigen-combining site | See: paratope. (05 Mar 2000) |
| apurinic site | <molecular biology> Sites in DNA from which purines have been lost by cleavage of the deoxy ribose N glycosidic linkage. (18 Nov 1997) |
| apyrimidinic site | <molecular biology> A site on DNA where a base is missing, in this case a pyrimidine (either cytosine or thymine), but the phosphodiester backbone is still intact. Compare: apurinic site. (09 Oct 1997) |
| ATT site | <molecular biology> A site on the chromosome of the bacteria E. Coli where the lambda bacteriophage can insert its genome (all of its DNA) so that it can lie dormant and have its DNA reproduced whenever the bacterium reproduces for as long as the bacterium remains healthy (that is, so that it becomes lysogenic). (09 Oct 1997) |
| gaylus-site | <chemical> A yellowish white, translucent mineral, consisting of the carbonates of lime and soda, with water. Origin: Named after Gay-Lussac, the French chemist. (20 Mar 1998) |
| receptor site | Point of attachment of viruses, hormones, or other activators to cell membranes. (05 Mar 2000) |