Gene Detail


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Gene Symbol SPTBN1
Synonyms betaSpII | DDISBA | ELF | HEL102 | SPTB2
Gene Description SPTBN1, spectrin beta chain, non-erythrocytic 1, is an an adapter protein within the TGF-beta/Smad3/Smad4 complex that plays a role in organization of the cytoskeleton (PMID: 25632041) and functions in liver development, liver regeneration, platelet formation, heart development (PMID: 25307947), and genomic stability (PMID: 28114741, PMID: 27248179). Fusions of SPTBN1-ALK have been observed in lung adenocarcinoma (PMID: 27496196) and colorectal cancer (PMID: 26678488).
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