LP61790-9

TGFBR1 gene

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Description

The TGFBR1 gene (transforming growth factor, beta receptor 1) [HGNC Gene ID:11772] is located on chromosome 9q22. The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008] [NCBI Gene ID:7046] 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: TGFBR1 gene
Part Display Name: TGFBR1 gene
Part Type: Component (Describes the core component or analyte measured)
Created On: 2006-12-12
Construct for LOINC Short Name: TGFBR1 gene

Related Codes

Code System	Code	Code Text	Code Version
HUGO Gene Nomenclature Committee (HGNC)	HGNC:11772	TGFBR1
National Center for Biotech Info (NCBI) Gene (National Center for Biotechnology Information (NCBI) Gene)	7046	TGFBR1

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Language Variants Get Info

Tag	Language	Translation
zh-CN	Chinese (China)	TGFBR1 基因 Synonyms: ACVRLK4;ALK-5;SKR4;TGF-beta receptor type-1 precursor;TGF-beta 受体 1 型前体;TGFR-1;TGF-β 受体 1 型前体;transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa);丝氨酸/苏氨酸-蛋白激酶受体 R4;丝氨酸/苏氨酸-蛋白激酶受体 R4（Serine/threonine-protein kinase
et-EE	Estonian (Estonia)	TGFBR1 geen
es-ES	Spanish (Spain)	Gen TGFBR1
it-IT	Italian (Italy)	TGFBR1, gene Synonyms: Gene TGFBR1
tr-TR	Turkish (Turkey)	TGFBR1 geni
ru-RU	Russian (Russian Federation)	TGFBR1 ген
nl-NL	Dutch (Netherlands)	TGFBR1-gen Synonyms: TGFBR1 gen
fr-FR	French (France)	TGFBR1 gène
pl-PL	Polish (Poland)	TGFBR1 gen Synonyms: Gen TGFBR1;gen receptora 1 transformującego czynnika wzrostu beta
el-GR	Greek (Greece)	Γονίδιο TGFBR1 Synonyms: Γονίδιο TGFBR1

LOINC Copyright

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