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2812 GP1BB

2812

GP1BB

glycoprotein Ib platelet subunit beta

protein-coding

Homo sapiens

基因描述

Type Description
Definition glycoprotein Ib platelet subunit beta

研究结论

Date Results Publications
2021-03-28 19:07:00 A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia. 33216977
2021-02-06 13:56:00 High prevalence of the natural Asn89Asp mutation in the GP1BB gene associated with Bernard-Soulier syndrome in French patients from the genetic isolate of Reunion Island. 31997307
2020-04-11 10:04:00 GPIBB hemizygosity does not result in either macrothrombocytopenia or bleeding in patients with 22q11 deletion syndrome. 30549403
2020-01-04 12:27:00 New heterozygous variant in GP1BB gene is responsible for an inherited form of macrothrombocytopenia. 29527674
2019-09-28 11:09:00 loss of CD34 and expression of CD42b define cells capable of factor V endocytosis and trafficking to proplatelet extensions during differentiation of megakaryocytes ex vivo from progenitor cells isolated from umbilical cord blood 29761851

名称对应

Type IDs
Synonymous BDPLT1, BS, CD42C, GPIBB, GPIbbeta
Gene
UniProtKB-ID: GP1BB_HUMAN
UniprotKB: P13224
UniParc: UPI000012B963, UPI000006EDC9
EMBL: J03259, L20860, U59632, AB086231, AF006988
Ensembl: ENSG00000203618
KO: hsa:2812
Nucleutide sequences
EMBL-CDS: BAC00777.1, AAC39781.1, AAB93437.1, AAA52594.1, AAA20398.1
Ensembl_TRS: ENST00000366425
Protein sequencees
Ensembl_PRO: ENSP00000383382
RefSeq: NP_000398.1
Others
UniRef100: UniRef100_P13224
UniRef90: UniRef90_P13224
UniRef50: UniRef50_P13224
UniGene: Hs.283743
CCDS: CCDS42980.1

全选

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研究热度

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