Gene: [03^/PROS1] protein S, alpha (activated protein-C cofactor; vitamin K-dependent); thromboembolic disease, recurrent venous; [PROS ]
FUN | [1] The
protein S is related functionally to another inhibitor of procoagulation
factors, protein C (GEM:02q13/PROC), being the
activation factor for the latter. Both proteins are components of the
vitamin K-dependent serine protease family. [2] Protein S in inactive form is bound to the complement component C4B (GEM:06p2133/C4B). In free state, it interacts with protein C, which is already activated (by the thrombin-thrombomodulin complex, see GEM:11^/F2 and GEM:20p112/THBD). In the resultant new complex, S and C proteins act as anticoagulators via (1) catalyzing the proteolysis of factors Va and VIIIa (GEM:01q2/F5 and GEM:0Xq28/F8C, respectively) and (2) decreasing the activity of plasminogen activator inhibitor, thus accelerating the fibrinolysis (on plasmin, its activators, and their inhibitors see Comment in GEM:06q2/PLG and GEM:07q22/PLGAI1)." |
FAG | Another PROS-like nucleic acid sequence is known, which is also mapped in chromosome 3 (GEM:03^/PROSP), however, its functional status remains unclear." |
PAT | It is known that up to 8% cases of familial thromboembolic disease are accounted for by the deficiency of protein S in serum (Briet-1987; Gladson-1988). Recently it was demonstrated that in some cases this deficiency is the result of deletions in middle region of the structural gene, PROS1, rather than of any regulation or epigenetic processes (Ploos van Amstel-1989). It is assumed that the heterozygosity for protein S deficiency substantially increases the risk for venous thromboses and thromboembolisms; therefore, PROS1 gene deletions are valuable genetic markers for hereditary protein S deficiency and efficient diagnostic criteria for this form of familial thrombophilias." |
REF | PHE,POP "Briet &: Thromb Haemost, 58, 29-?, 1987 PHE,PAT,MGC "Comp &: J Clin Invest, 74, 2082-2088, 1984a PHE,PAT,MGC "Comp, Esmon: New Engl J Med, 311, 1525-1528, 1984b MEB "Dahlback B: JBC, 261, 12022-?, 1986 MEB "De Fouw &: Blood, 67, 1189-?, 1986 PHE,PAT,MGC "Engesser &: Ann Int Med, 106, 677-682, 1987 MEB "Gardiner &: Circulation, 70, (Suppl II), 205-?, 1984 PHE,POP "Gladson &: Thromb Haemost, 59, 18-?, 1988 MUT "Hayashi T &: Blood, 83, 683-690, 1994 FUN "Heeb MJ &: PNAS, 91, 2728-2732, 1994 CLO,SEQ,MOP "Hoskins J &: PNAS, 84, N2, 349-353, 1987 PHE,PAT,MGC "Kamiya &: Blood, 67, 406-410, 1986 PAT "Koller H &: Neurology, 44, 1238-1240, 1994 LOC "Long GL &: Somat Cell Mol Genet, 14, 93-98, 1988 CLO,SEQ,MOP "Lundwall A &: PNAS, 83, N18, 6716-6720, 1986 FUN "Maillard C &: Endocrinology, 130, 1599-1604, 1992 PAT "Malnick SDH &: New Engl J Med, 329, 1898-1898, 1993 LOC "Naylor &: CCG, 46, (HGM9), 669, 1987 MUT,MOL,PAT,GEN "Ploos van Amstel HK &: Blood, 73, N2, 479-483, 1989 EXP,LOC,PRO "Ploos van Amstel HK &: BBRC, 157, 1033-1038, 1988 CLO,SEQ,MOP "Ploos van Amstel HK &: FEBS Lett, 222, N1, 186-190, 1987a EXP,LOC,PRO "Ploos van Amstel HK &: Thromb Haemost, 58, 982-987, 1987b PHE,PAT,MGC "Sas &: Thromb Haemost, 54, 724, 1985 PHE,PAT,MGC "Schwarz &: Blood, 64, 1297-1300, 1984 LOC "Stanislovitis &: AJHG, 41, A187, 1987 LOC "Watkins PC &: Blood, 71, 238-241, 1988 LOC "Watkins PC &: CCG, 46, (HGM9), 712, 1987 |
SWI | SWISSPROT: P07225 |
KEY | hem, clot |
CLA | coding, basic |
LOC | 03 p11.1-q11.2 |
MIM | MIM: 176880 |
SYN | PROS |
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