염색체 관련 단백질 G2 (CAP-G2) 또는 류신 지퍼 단백질 5 (LUZP5)로도 알려진 콘덴신-2 복합소단위 G2 (CAP-G2)는 인간에서 NCAPG2 유전자 에 의해 암호화된 단백질 이다.[5] [6] CAP-G2는 염색체 응결에 관여하는 큰 단백질 복합체인 콘덴서 II의 서브 단위다. 유사시[7]
임상적 중요성 인간의 이 유전자의 돌연변이는 심각한 신경 발달 결함, 번성 실패, 시력 이상, 요로젠탈 및 사지 형태생식의 결함 등과 연관되어 왔다.[8]
참조 ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000146918 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000042029 - 앙상블 , 2017년 5월^ "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 .^ Ono T, Losada A, Hirano M, Myers MP, Neuwald AF, Hirano T (October 2003). "Differential contributions of condensin I and condensin II to mitotic chromosome architecture in vertebrate cells" . Cell . 115 (1): 109–21. doi :10.1016/S0092-8674(03)00724-4 PMID 14532007 . S2CID 18811084 . ^ "Entrez Gene: NCAPG2 non-SMC condensin II complex, subunit G2" .^ Kim JH, Shim J, Ji MJ, Jung Y, Bong SM, Jang YJ, Yoon EK, Lee SJ, Kim KG, Kim YH, Lee C, Lee BI, Kim KT (August 2014). "The condensin component NCAPG2 regulates microtubule-kinetochore attachment through recruitment of Polo-like kinase 1 to kinetochores" . Nature Communications . 5 : 4588. Bibcode :2014NatCo...5.4588K . doi :10.1038/ncomms5588 PMID 25109385 . ^ Khan TN, Khan K, Sadeghpour A, Reynolds H, Perilla Y, McDonald MT, Gallentine WB, Baig SM, Davis EE, Katsanis N, et al. (Task Force for Neonatal Genomics) (January 2019). "Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies" . American Journal of Human Genetics . 104 (1): 94–111. doi :10.1016/j.ajhg.2018.11.017 . PMC 6323578 PMID 30609410 .
추가 읽기 Smith ED, Xu Y, Tomson BN, Leung CG, Fujiwara Y, Orkin SH, Crispino JD (February 2004). "More than blood, a novel gene required for mammalian postimplantation development" . Molecular and Cellular Biology . 24 (3): 1168–73. doi :10.1128/MCB.24.3.1168-1173.2004 . PMC 321451 PMID 14729962 . Nousiainen M, Silljé HH, Sauer G, Nigg EA, Körner R (April 2006). "Phosphoproteome analysis of the human mitotic spindle" . Proceedings of the National Academy of Sciences of the United States of America . 103 (14): 5391–6. Bibcode :2006PNAS..103.5391N . doi :10.1073/pnas.0507066103 PMC 1459365 PMID 16565220 .
