Background
This gene encodes a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq].
Product Information
Source: HEK293
| Purity: >95% by SDS-PAGE analysis
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Purification Method: FPLC
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Gene/Protein Information
Gene Name: TGFBR2
| Gene Symbol: AAT3, FAA3, HNPCC6, MFS2, RIIC, TAAD2, TGFR2, TGFbetaRII
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Gene Name Synonyms: AAT3, FAA3, HNPCC6, MFS2, RIIC, TAAD2, TGFR2, TGFbetaRII
| NCBI Acc#: NM_001024847
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Chromosomal Location: 3p22
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