Entrez gene ID | | 9372 |
Official gene symbol | | ZFYVE9 |
Full name | | zinc finger, FYVE domain containing 9 |
Aliases | | ,MADHIP,NSP,SARA,SMADIP, |
Gene summary | | This gene encodes a double zinc finger (FYVE domain) protein that interacts directly with SMAD2 and SMAD3, and is involved in Alzheimer's disease. SMAD proteins transmit signals from transmembrane serine/threonine kinase receptors to the nucleus. The FYVE domain has been identified in a number of unrelated signaling molecules. This protein functions to recruit SMAD2 to the transforming growth factor-beta receptor. The FYVE domain is required to maintain the normal localization of this protein but is not involved in mediating interaction with SMADs. The C-terminal domain of this protein interacts with the TGFB receptor. This protein is a component of the TGFB pathway that brings the SMAD substrate to the receptor. Three alternatively spliced transcripts encoding distinct isoforms have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 1 Locus: 1p32.3 |
Gene position | | 52608046 - 52812358 Map Viewer |
Gene orientation | | plus |
Gene size | | 204313 bp |
Gene sequence |
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OMIM ID | | 603755 |
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