Gene: [13q34/F10] coagulation factor X (thrombokinase, prothrombinase); Stuart-Prower disease (coagulation factor X deficiency);
COM | One of the names of factor X deficiency came from the surnames of two patients who were first described to have this type of hemorrhagic diathesis (Mr.Stuart and Ms.Prower)." |
FUN | It is factor Xa - an active form of factor X - that possesses the thrombokinase activity per se. It is formed by limited proteolysis of factor X (see GEM:13q34/F7). The function of Xa consists in the convertion of prothrombin (profactor II) into active factor IIa or thrombin (see also GEM:11^/F2)." |
PRO | Gene-specific DNA probe pDH1 is a 0.92 kb fragment cloned at PstI site in the vector pKT218 (Scambler-1986; Hay-1986)." |
POL | Enzyme Alleles in
kb/(Popul Freq) Reference; Probe number [1] TaqI A1= 1.62/(0.77); A2= 1.25/(0.23) Jaye-1985; Probe 1 [2] BclI B1= 4.7/(0.88); B2= 4.2/(0.12) Scambler-1986; Probe 2 C1= 3.5/(0.13); C2= 3.15/(0.87) Scambler-1986; Probe 2 [3] EcoRI E1= 7.8/(0.83); E2= 7.4/(0.17) Hay-1986; Probe 2 [4] PstI P1= 2.9/(0.83); P2= 2.5/(0.17) Hay-1986; Probe 2" |
REF | MUT,GEN
"Bernardi &: Blood, 73, N8, 2123-2127, 1989 PEP,SEQ,MOP "DiScipio &: Biochemistry, 16, 698-706, 1977 MUT,GEN "Fair &: Blood, 73, N8, 2108-2116, 1989 PRO,SEQ,EVO "Fung MR &: PNAS, 82, (Jun), 3591-3595, 1985 HIS,PAT,FOG "Girolami &: Acta Haematol, 73, 31-36, 1985 HIS,PAT,FOG "Girolami &: Acta Haematol, 49, 114-122, 1973 PRO,POL "Hassan HJ &: Blood, 71, N5, 1353-1356, 1988 PRO,POL "Hay CW &: NAR, 14, 5118, 1986 PRO,POL "Jaye M &: NAR, 13, 8286, 1985 PRO,SEQ,EVO "Kaul RK &: Gene, 41, 311-314, 1986 GEN,EVO,FAG "Leytus CP &: Biochemistry, 25, 5098-5102, 1986 PRO,SEQ,EVO "Leytus CP &: PNAS, 81, (Jun), 3699-3702, 1984 PEP,SEQ,MOP "McMullen BA &: Biochemistry, 22, 2875-2884, 1983 HIS,PAT,FOG "Mori &: Tohoku J Exp Med, 133, 1-19, 1981 LOC "Rocchi M &: Hum Genet, 74, 30-33, 1986 HIS,PAT,FOG "Roos, Huizinga: Acta Genet Statist Med, 9, 115-122, 1959 LOC "Royle NJ &: CCG, 41, 185-188, 1986 LOC "Royle NJ &: CCG, 40, (HGM8), 736, 1985 PRO,POL "Scambler PJ &: AJHG, 38, 567-572, 1986 LOC "Scambler PJ, Williamson: CCG, 39, 231-233, 1985 LOC "Stoll C, Roth: Hum Genet, 53, 303-304, 1980 HIS,PAT,FOG "Sumer &: Eur J Pediatr, 145, 119-120, 1986 LOC "see also GEM:13q34/F7 |
SWI | SWISSPROT: P00742 |
KEY | hem, clot |
CLA | coding, basic |
LOC | 13 q34 |
MIM | MIM: 227600 |
EZN | ENZYME: 3.4.21.6 |
