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Protein 8 domena upredene zavojnice je protein koji je kod ljudi kodiran genom CCDC8 .[ 5]
Simboli
10 20 30 40 50 MLQIGEDVDY LLIPREVRLA GGVWRVISKP ATKEAEFRER LTQFLEEEGR TLEDVARIME KSTPHPPQPP KKPKEPRVRR RVQQMVTPPP RLVVGTYDSS NASDSEFSDF ETSRDKSRQG PRRGKKVRKM PVSYLGSKFL GSDLESEDDE ELVEAFLRRQ EKQPSAPPAR RRVNLPVPMF EDNLGPQLSK ADRWREYVSQ VSWGKLKRRV KGWAPRAGPG VGEARLASTA VESAGVSSAP EGTSPGDRLG NAGDVCVPQA SPRRWRPKIN WASFRRRRKE QTAPTGQGAD IEADQGGEAA DSQREEAIAD QREGAAGNQR AGAPADQGAE AADNQREEAA DNQRAGAPAE EGAEAADNQR EEAADNQRAE APADQRSQGT DNHREEAADN QRAEAPADQG SEVTDNQREE AVHDQRERAP AVQGADNQRA QARAGQRAEA AHNQRAGAPG IQEAEVSAAQ GTTGTAPGAR ARKQVKTVRF QTPGRFSWFC KRRRAFWHTP RLPTLPKRVP RAGEARNLRV LRAEARAEAE QGEQEDQL
Ovaj gen kodira protein koji sadrži domen upredene zavojnice . Kodirani protein funkcionira kao kofaktor potreban za p53 posredovanu apoptozu , nakon oštećenja DNK , a također može imati ulogu u rastu i interakcijama s proteinom citoskeletnog obskurinolikog adaptera 1.
Pokazalo se da mutacije u ovom genu uzrokuju 3-M sindrom .[ 6]
^ a b c GRCh38: Ensembl release 89: ENSG00000169515 - Ensembl , maj 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041117 - Ensembl , maj 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Entrez Gene: Coiled-coil domain containing 8" . Pristupljeno 30. 12. 2011 .^ Hanson D, Murray PG, O'Sullivan J, Urquhart J, Daly S, Bhaskar SS, Biesecker LG, Skae M, Smith C, Cole T, Kirk J, Chandler K, Kingston H, Donnai D, Clayton PE, Black GC (juli 2011). "Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth" . Am. J. Hum. Genet . 89 (1): 148–53. doi :10.1016/j.ajhg.2011.05.028 . PMC 3135816 PMID 21737058 .
Hanson, D.; Murray, P. G.; O'Sullivan, J.; Urquhart, J.; Daly, S.; Bhaskar, S. S.; Biesecker, L. G.; Skae, M.; Smith, C.; Cole, T.; Kirk, J.; Chandler, K.; Kingston, H.; Donnai, D.; Clayton, P. E.; Black, G. C. M. (2011). "Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth" . The American Journal of Human Genetics . 89 (1): 148–153. doi :10.1016/j.ajhg.2011.05.028 . PMC 3135816 PMID 21737058 .
