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

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