RecName: Full=Platelet glycoprotein Ib beta chain; Short=GP-Ib beta; S - Protein

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GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families. [Ann Hematol. 2023]
GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families.
Barozzi S, Pecci A, Marinoni M, Fontana G, Zanchetta ME, Noris P, Savoia A, Faleschini M. Ann Hematol. 2023 Mar; 102(3):677-679. Epub 2022 Dec 21.
A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly. [Int J Mol Sci. 2021]
A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly.
Barozzi S, Bozzi V, De Rocco D, Giangregorio T, Noris P, Savoia A, Pecci A. Int J Mol Sci. 2021 Sep 22; 22(19). Epub 2021 Sep 22.
A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation. [Platelets. 2022]
A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation.
Dunstan-Harrison C, Morison IM, Ledgerwood EC. Platelets. 2022 Feb 17; 33(2):324-327. Epub 2021 Apr 4.

RefSeq genomic sequence
See the genomic reference sequence for the GP1BB gene (NG_007974.1).
RefSeq protein
See the reference protein sequence for platelet glycoprotein Ib beta chain precursor (NP_000398.1).

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P13224 [Domain Mapping of Disease Mut...]
P13224
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Platelet glycoprotein Ib beta chain; Short=GP-Ib beta; Short=GPIb-...
RecName: Full=Platelet glycoprotein Ib beta chain; Short=GP-Ib beta; Short=GPIb-beta; Short=GPIbB; AltName: Full=Antigen CD42b-beta; AltName: CD_antigen=CD42c; Flags: Precursor
gi|121532|sp|P13224.1|GP1BB_HUMAN

Protein
ENSPMAG00000001023 AND (alive[prop]) (0)
Gene
ENSCPOG00000004730 AND (alive[prop]) (0)
Gene
Saccharomyces cerevisiae rad4 gene, complete cds
Saccharomyces cerevisiae rad4 gene, complete cds
gi|172334|gb|M24928.1|YSCRAD4B

Nucleotide
JGI_XZT42323.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7617791 5'...
JGI_XZT42323.fwd NIH_XGC_tropTad5 Xenopus tropicalis cDNA clone IMAGE:7617791 5', mRNA sequence
gi|74282995|gnl|dbEST|31358521|gb|C 05.2|

Nucleotide

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Protein