LP62084-6

ITGA2B gene

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Descriptions

Mutations in the ITGA2B gene causes Glanzmann thrombasthenia (GT), a rare autosomal recessive bleeding disorder characterized by quantitative and/or qualitative defects of the platelet glycoprotein (GP) IIb/IIIa complex. PMID: 22513797 Source: Regenstrief Institute, PMID: 22513797

The ITGA2B gene (integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)) [HGNC Gene ID:6138] is located on chromosome 17q21.32. ITGA2B encodes integrin alpha chain 2b. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. Alpha chain 2b undergoes post-translational cleavage to yield disulfide-linked light and heavy chains that join with beta 3 to form a fibronectin receptor expressed in platelets that plays a crucial role in coagulation. Mutations that interfere with this role result in thrombasthenia. In addition to adhesion, integrins are known to participate in cell-surface mediated signalling. [provided by RefSeq, Jul 2008] [NCBI Gene ID:3674] Source: National Center for Biotechnology Information (NCBI) Gene

Reference Information

Type	Source	Reference
Webcontent	Online Mendelian Inheritance in Man^®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.	Link to OMIM

Basic Part Properties

Part Name: ITGA2B gene
Part Display Name: ITGA2B gene
Part Type: Component (Describes the core component or analyte measured)
Created On: 2007-01-04
Construct for LOINC Short Name: ITGA2B gene

Related Codes

Code System	Code	Code Text	Code Version
HUGO Gene Nomenclature Committee (HGNC)	HGNC:6138	ITGA2B
National Center for Biotech Info (NCBI) Gene (National Center for Biotechnology Information (NCBI) Gene)	3674	ITGA2B

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Language Variants Get Info

Tag	Language	Translation
zh-CN	Chinese (China)	ITGA2B 基因 Synonyms: CD41 基因;CD41B 基因;GP2B;GPalpha Iib;GPIIb;GTA;HPA3;ITGAB;整合素 alpha-IIb 前体;整合素 α-IIb 前体;整合素 α-IIb 前体（Integrin alpha-IIb precursor）;整合素, IIb/IIIa 复合体的 alpha 2b 血小板糖蛋白 IIb, 抗原 CD41;整合素, IIb/IIIa 复合体的 alpha 2b 血小板糖蛋白 IIb, 抗原 CD41（integrin, alpha 2b platelet gly
et-EE	Estonian (Estonia)	ITGA2B geen
es-ES	Spanish (Spain)	Gen ITGA2B
it-IT	Italian (Italy)	ITGA2B, gene Synonyms: Gene ITGA2B
tr-TR	Turkish (Turkey)	ITGA2B geni
ru-RU	Russian (Russian Federation)	ITGA2B ген
nl-NL	Dutch (Netherlands)	ITGA2B-gen Synonyms: ITGA2B gen
fr-FR	French (France)	ITGA2B gène
pl-PL	Polish (Poland)	ITGA2B gen Synonyms: Gen ITGA2B
el-GR	Greek (Greece)	Γονίδιο ITGA2B Synonyms: Γονίδιο ITGA2B

LOINC Copyright

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