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Gene : GP1BA Homo sapiens

Name  ? glycoprotein Ib platelet subunit alpha Cytological Location  17p13.2
Brief Description  glycoprotein Ib platelet subunit alpha
Description  Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013]
  • synonyms:
  • OTTHUMG00000177946,
  • platelet glycoprotein Ib alpha chain,
  • BDPLT3,
  • glycoprotein Ib (platelet), alpha polypeptide,
  • CD42b,
  • GPIbalpha,
  • GP1B,
  • VWDP,
  • GPIbA,
  • CD42B,
  • BSS,
  • BDPLT1,
  • NM_000173,
  • uc021tnz.1,
  • CD42b-alpha,
  • GP1B,
  • DBPLT3,
  • GP1BA,
  • HGNC:4439,
  • GPIbalpha
  • identifiers:
  • 2811,
  • ENSG00000185245,
  • GP1BA

Genome feature

Region: gene ? Length: 2747  
Location: 17:4932277-4935023 Cyto location: 17p13.2


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Disease

4 Diseases

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3753 SN Ps

5 Cross References

19 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results