Gene: [05q3/F12] coagulation factor XII (Hageman factor); Hageman clotting factor deficiency;
COM | The F12 gene location in chr 5q is determined by hybridization of the genomic DNA from somatic hybrid cells with the gene-specific DNA probes and by in situ hybridization on chromosomes." |
HIS | Until gene-specific DNA probe cloning location of this gene had remained under discussion during almost 10 years. Two alternative suggestions about F12 location in chr 7q or 6p were rejected and its location in chr 5q was definitely proved." |
GEN | The gene length: 12 kb. Exons: 14. Introns: 13.
The most of exons (3-14) are divided by short introns (80-554 bp) and span only about 1/3 of the gene length (4.2 kb). Typical promotor sites (TATA and CAAT) are absent (Cool-1987)." |
FUN | Activates clotting factors VIII and XI, plasminogen and prekallikrein. Cleaves selectively Arg-Ile bonds in factor VII to form factor VIIa and factor XI to form factor XIa." |
MOP | Prepropeptide contains 596 amino acids. It is subjected to glycosylation and to other posttranslation modifications forming light and heavy subunits, which are united in a proenzyme and are subjected to further conversion up to the beta and alpha peptides of the clotting factor XIIa." |
PAT | The F12 deficiency does not charactarized by specific clinical clinical manifestations. However, the rare familial cases with mild bleeding tendency and cerebral hemorrhage have been described." |
FOG | The recessive forms are typical but some dominant familial cases have been described." |
REF | PAT,PHE,FOG "Bennett B &: Blood, 40, 412-415, 1972 GEN,POL "Bernardi F &: Blood, 69, 1421-1424, 1987 LOC,CYG,MOL "Citarella F &: Hum Genet, 80, 397-398, 1988 LOC,CYG,MOL "Citarella F &: CCG, 46, (HGM9), 593, 1987 GEN,MOP "Cool DE, MacGillivray RTA: JBC, 262, N28, 13662-13673, 1987 PRO,SEQ,EXP,MOP "Cool DE &: JBC, 260, N25, 13666-13676, 1985 PAT,PHE,FOG "Egeberg O: Thromb Diath Haemorrah, 23, 432-440, 1970 PEP,STR,EVO "Fujikawa K, McMullen: JBC, 258, N18, 10924-10933, 1983 PAT,PHE,FOG "Gordon EM &: Ann Int Med, 95, 697-700, 1981 PAT,PHE,FOG "Lucia JG &: Thromb Haemost, 42, 1009-1017, 1979 PEP,STR,EVO "McMullen, Fujikawa: JBC, 260, N9, 5328-5341, 1983 PRO,SEQ,EXP,MOP "Que BG, Davie: Biochemistry, 25, 1525-1528, 1986 PAT,PHE,FOG "Ratnoff OD: Thromb Haemost, 43, 95-98, 1980 LOC,CYG,MOL "Riddell DC &: CCG, 46, (HGM9), 682, 1987 LOC,CYG,MOL "Royle NJ &: Somat Cell Mol Genet, 14, N2, 217-221, 1988 PAT,MUT "Schloesser M &: Hum Mol Genet, 4, 1235-1237, 1995 PRO,SEQ,EXP,MOP "Tripodi M &: NAR, 14, N7, 3146, 1986 |
SWI | SWISSPROT: P00748 |
KEY | hem, clot |
CLA | coding, basic |
LOC | 05 q33-t |
MIM | MIM: 234000 |
EZN | ENZYME: 3.4.21.38 |
Смотрите также:
