S Wikipedije, slobodne enciklopedije
EVC jest gen kojem je kod ljudi pridružen Ellis-van Creveldov sindrom . Nalazi se na hromosomu 4 i preklapa sa genom CRMP1 .[5]
Dužina polipeptidnog lanca je 992 aminokiseline , а molekulska težina 111.990 Da .[6]
10 20 30 40 50 MARGGAACKS DARLLLGRDA LRPAPALLAP AVLLGAALGL GLGLWLGCRA GRQRTRHQKD DTQNLLKNLE SNAQTPSETG SPSRRRKREV QMSKDKEAVD ECEPPSNSNI TAFALKAKVI YPINQKFRPL ADGSSNPSLH ENLKQAVLPH QPVEASPSSS LGSLSQGEKD DCSSSSSVHS ATSDDRFLSR TFLRVNAFPE VLACESVDVD LCIYSLHLKD LLHLDTALRQ EKHMMFIQIF KMCLLDLLPK KKSDDELYQK ILSKQEKDLE ELEKGLQVKL SNTEMSGAGD SEYITLADVE KKEREYSEQL IDNMEAFWKQ MANIQHFLVD QFKCSSSKAR QLMMTLTERM IAAEGLLCDS QELQALDALE RTMGRAHMAK VIEFLKLQVQ EETRCRLAAI SHGLELLAGE GKLSGRQKEE LLTQQHKAFW QEAERFSREF VQRGKDLVTA SLAHQVEGTA KLTLAQEEEQ RSFLAEAQPT ADPEKFLEAF HEVLERQRLM QCDLEEEENV RATEAVVALC QELYFSTVDT FQKFVDALFL QTLPGMTGLP PEECDYLRQE VQENAAWQLG KSNRFRRQQW KLFQELLEQD QQVWMEECAL SSVLQTHLRE DHEGTIRGVL GRLGGLTEES TRCVLQGHDL LLRSALRRLA LRGNALATLT QMRLSGKKHL LQELREQRAL EQGSSQCLDE HQWQLLRALE ARVLEEASRL EEEAQQTRLQ LQQRLLAEAQ EVGQLLQQHM ECAIGQALLV HARNAATKSR AKDRDDFKRT LMEAAVESVY VTSAGVSRLV QAYYQQIGRI MEDHEERKLQ HLKTLQGERM ENYKLRKKQE LSNPSSGSRT AGGAHETSQA VHQRMLSQQK RFLAQFPVHQ QMRLHAQQQQ AGVMDLLEAQ LETQLQEAEQ NFISELAALA RVPLAESKLL PAKRGLLEKP LRTKRKKPLP QERGDLGVPN NEDLASGDQT SGSLSSKRLS QQESEAGDSG NSKKMLKRRS NL
EVC je jedan od dva gena (drugi je EVC2) koji nakon mutacija izazivaju EvC (Ellis-van Creveldov sindrom) kod ljudi i utvrđeno je da djeluje kao pozitivni posrednik za tri ježeve signalne molekule (Hh).[7] − /− ) pokazuju slične fizičke karakteristike kao ljudi, kao što su skraćeni udovi i oštećenja zuba .[7] [8] [9]
^ a b c GRCh38: Ensembl release 89: ENSG00000072840 - Ensembl , maj 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029122 - 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 .^ Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J (mart 2000). "Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis". Nature Genetics . 24 (3): 283–6. doi :10.1038/73508 . PMID 10700184 . S2CID 1391136 . ^ "UniProt, P57679" (jezik: engleski). Pristupljeno 25. 10. 2021 .^ a b Ruiz-Perez VL, Blair HJ, Rodriguez-Andres ME, Blanco MJ, Wilson A, Liu YN, Miles C, Peters H, Goodship JA (august 2007). "Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia" . Development . 134 (16): 2903–12. doi :10.1242/dev.007542 PMID 17660199 . ^ Tompson SW, Ruiz-Perez VL, Blair HJ, Barton S, Navarro V, Robson JL, Wright MJ, Goodship JA (januar 2007). "Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients". Human Genetics . 120 (5): 663–70. doi :10.1007/s00439-006-0237-7 . PMID 17024374 . S2CID 28520012 . ^ Ulucan H, Gül D, Sapp JC, Cockerham J, Johnston JJ, Biesecker LG (oktobar 2008). "Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene" . BMC Medical Genetics . 9 (1): 92. doi :10.1186/1471-2350-9-92 . PMC 2584628 PMID 18947413 .
