Gene: [17p1/GP1BA] glycoprotein Ib (platelet), alpha polypeptide (antigen CD42B alpha); giant platelet syndrome (Bernard-Soulier macrothrombocytopenia); coagulation factor VIII VWF (von Willebrand factor) receptor; von Willebrand pseudohemophilia, platelet type (MIM:177820); [GP1B CD42BA ]
FUN | Participates in the adhesion of platelet to injuried vascular walls. |
MOP | The GP1BA gene product is a subunit of the receptor for von Willebrand factor (GEM:12p13/F8VWF). The receptor consists of four physically associated proteins. GPIb-alpha (Mr 143 kD) is linked through a disulfide bond(s) to GPIb-beta (Mr 22 kD; GEM:22q112/GP1BB) producing a heterodimer, which, in turn, is noncovalently bound to the two other members - GP-V (Mr 83kD; GEM:00.0/GP5) and GP-IX (Mr 20kD; GEM:03^/GP9). The receptor has a discrete binding site for the von Willebrand factor ligand, located within GPIb-alpha chain." |
REF | PRO,COD,FAG "Lopez JA &: PNAS, 85, 2135-2139, 1988 PRO,LOC,REL "Lopez JA &: PNAS, 84, 5615-5619, 1987 REV,PAT "Miller JL: Thromb Haemost, 75, 865-869, 1996 MUT "Miller JL &: PNAS, 88, 4761-4765, 1991 LOC "Werner &: Gene, 85, 517-524, 1989 |
SWI | SWISSPROT: P07359 |
KEY | hem, clot, recp, mem |
CLA | coding, basic |
LOC | 17 pt-12 |
MIM | MIM: 231200 |
SYN | GP1B CD42BA |
Смотрите также:
