Hamartin
| Hamartin | ||
|---|---|---|
| Properties of human protein | ||
| Mass / length primary structure | 1164 amino acids | |
| Secondary to quaternary structure | Homodimer; Heterodimer | |
| Cofactor | Tuberine | |
| Identifier | ||
| Gene name | TSC1 | |
| External IDs | ||
| Occurrence | ||
| Parent taxon | Vertebrates | |
Hamartin (TSC1) is a protein found in vertebrates that acts as a tumor suppressor . For this function, the formation of the Hamartin- is Tuberin complex necessary that can be disturbed by various defects in humans, for example, by mutation of TSC1 - gene . Inability to form the complex is the cause of tuberous sclerosis , a hereditary disease.
The TSC1-TSC2 complex inhibits the phosphorylation of the S6 kinase by binding to mTOR and thus inhibits the mTOR signaling pathway . TSC1-TSC2 loss leads to resistance to amino acid starvation, that is, if TSC1-TSC2 is defective, protein synthesis is continued even if there is a lack of amino acids. However, the renal cysts caused by TSC1-TSC2 deficiency are not formed via the mTOR pathway.
Individual evidence
- ↑ Homologues at OMA
- ↑ X. Gao, Y. Zhang, P. Arrazola, O. Hino, T. Kobayashi, RS Yeung, B. Ru, D. Pan: Tsc tumor suppressor proteins antagonize amino-acid-TOR signaling . In: Nat. Cell Biol. Volume 4 , no. 9 , August 2002, p. 699-704 , doi : 10.1038 / ncb847 , PMID 12172555 .
- ↑ Cleo S Bonnet, Mark Aldred, Christopher von Ruhland, Rebecca Harris, Richard Sandford, Jeremy P Cheadle: Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis . In: Hum. Mol. Genet. tape 18 , no. 12 , 2009, p. 2166-2176 , PMID 19321600 .