인간의 효소 코딩 유전자
Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-Dolichyl-alpha-1,6-mannosyl transferase는 인간에서 ALG12 유전자 에 의해 암호화된 효소 다.[5] [6]
이 유전자는 글리코실전달효소 22과의 한 구성원을 인코딩한다. 인코딩된 단백질은 단백질 글리코실화에 필요한 돌리콜-PP-올리고사카라이드 전구체(7)GlcNAc(2)에 알파-1.6 링크에서 8번째 만노오스 잔류물을 추가하는 촉매 작용 을 한다. 이 유전자의 돌연변이는 비정상적인 N글리코실레이션으로 특징지어지는 글리코실레이션 타입 Ig(CDG-Ig)의 선천성 질환과 연관되어 왔다.[6]
참조 ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000182858 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000035845 - 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 .^ Chantret I, Dupre T, Delenda C, Bucher S, Dancourt J, Barnier A, Charollais A, Heron D, Bader-Meunier B, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE (Jul 2002). "Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase" . J Biol Chem . 277 (28): 25815–22. doi :10.1074/jbc.M203285200 PMID 11983712 . ^ a b "Entrez Gene: ALG12 asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase)" . 추가 읽기 Jaeken J (2005). "Congenital disorders of glycosylation (CDG): update and new developments". J. Inherit. Metab. Dis . 27 (3): 423–6. doi :10.1023/B:BOLI.0000031221.44647.9e . PMID 15272470 . S2CID 7608163 . Jaeken J, Carchon H (2004). "Congenital disorders of glycosylation: a booming chapter of pediatrics". Curr. Opin. Pediatr . 16 (4): 434–9. doi :10.1097/01.mop.0000133636.56790.4a . PMID 15273506 . Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22" . Nature . 402 (6761): 489–95. doi :10.1038/990031 PMID 10591208 . Thiel C, Schwarz M, Hasilik M, et al. (2003). "Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig" . Biochem. J . 367 (Pt 1): 195–201. doi :10.1042/BJ20020794 . PMC 1222867 PMID 12093361 . Grubenmann CE, Frank CG, Kjaergaard S, et al. (2003). "ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg" . Hum. Mol. Genet . 11 (19): 2331–9. doi :10.1093/hmg/11.19.2331 PMID 12217961 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903. doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Zdebska E, Bader-Meunier B, Schischmanoff PO, et al. (2004). "Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig" . Pediatr. Res . 54 (2): 224–9. doi :10.1203/01.PDR.0000072327.55955.F7 PMID 12736397 . Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome" . Genome Biol . 5 (10): R84. doi :10.1186/gb-2004-5-10-r84 . PMC 545604 PMID 15461802 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Wan D, Gong Y, Qin W, et al. (2004). "Large-scale cDNA transfection screening for genes related to cancer development and progression" . Proc. Natl. Acad. Sci. U.S.A . 101 (44): 15724–9. doi :10.1073/pnas.0404089101 PMC 524842 PMID 15498874 .
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