호모사피엔스 종의 단백질 코딩 유전자
GCNT2 식별자 별칭 GCNT2 외부 ID OMIM : 600429 MGI : 1100870 호몰로진 : 41535 GeneCard : GCNT2 직교체 종 인간 마우스 엔트레스 앙상블 유니프로트 RefSeq(mRNA) RefSeq(단백질) 위치(UCSC) Chr 6: 10.49 – 10.63Mb Cr 13: 41.01 – 41.11Mb PubMed 검색[3] [4] 위키다타
N-아세틸락토사미나이드 베타-1,6-N-아세틸글루코사미닐전달효소 는 인간에서 GCNT2 유전자 에 의해 암호화된 효소 다.[5] [6] [7]
이 유전자는 혈액군 I 항원 의 형성을 담당하는 효소를 암호로 한다. I 항원과 I 항원은 각각 선형과 분기형 폴리-N-아세틸락토사미노글리칸으로 구별된다. 인코딩된 단백질은 배아발달 중 태아 I 항원 을 성체 I 항원으로 전환하는 베타-1,6-N-아세틸글루코사미닐전달효소다 . 이 유전자의 돌연변이는 성인 i 혈액형 표현형 과 연관되어 왔다. 대안으로 다른 ISO 양식을 인코딩하는 분할된 대본 변형이 설명되어 있다.[7]
참조 ^ a b c ENSG00000285222 GRCh38: 앙상블 릴리스 89: ENSG00000111846, ENSG00000285222 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000021360 - 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 .^ Bierhuizen MF, Mattei MG, Fukuda M (Apr 1993). "Expression of the developmental I antigen by a cloned human cDNA encoding a member of a beta-1,6-N-acetylglucosaminyltransferase gene family" . Genes Dev . 7 (3): 468–78. doi :10.1101/gad.7.3.468 PMID 8449405 . ^ Yeh JC, Ong E, Fukuda M (Mar 1999). "Molecular cloning and expression of a novel beta-1, 6-N-acetylglucosaminyltransferase that forms core 2, core 4, and I branches" . J Biol Chem . 274 (5): 3215–21. doi :10.1074/jbc.274.5.3215 PMID 9915862 . ^ a b "Entrez Gene: GCNT2 glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)" . 추가 읽기 Fukuda M, Fukuda MN, Hakomori S (1979). "Developmental change and genetic defect in the carbohydrate structure of band 3 glycoprotein of human erythrocyte membrane" . J. Biol. Chem . 254 (10): 3700–3. doi :10.1016/S0021-9258(18)50640-2 PMID 438154 . Keats B, Ott J, Conneally M (1989). "Report of the committee on linkage and gene order". Cytogenet. Cell Genet . 51 (1–4): 459–502. doi :10.1159/000132805 . PMID 2791656 . Bierhuizen MF, Maemura K, Kudo S, Fukuda M (1995). "Genomic organization of core 2 and I branching beta-1,6-N-acetylglucosaminyltransferases. Implication for evolution of the beta-1,6-N-acetylglucosaminyltransferase gene family". Glycobiology . 5 (4): 417–25. doi :10.1093/glycob/5.4.417 . PMID 7579796 . Magnet AD, Fukuda M (1997). "Expression of the large I antigen forming beta-1,6-N-acetylglucosaminyltransferase in various tissues of adult mice" . Glycobiology . 7 (2): 285–95. doi :10.1093/glycob/7.2.285 PMID 9134435 . Sasaki K, Kurata-Miura K, Ujita M, et al. (1998). "Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis" . Proc. Natl. Acad. Sci. U.S.A . 94 (26): 14294–9. doi :10.1073/pnas.94.26.14294 PMC 24948 PMID 9405606 . Olavesen MG, Bentley E, Mason RV, et al. (1998). "Fine mapping of 39 ESTs on human chromosome 6p23-p25". Genomics . 46 (2): 303–6. doi :10.1006/geno.1997.5032 . PMID 9417921 . Yu LC, Twu YC, Chang CY, Lin M (2002). "Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen" . Blood . 98 (13): 3840–5. doi :10.1182/blood.V98.13.3840 PMID 11739194 . Potter KN, Hobby P, Klijn S, et al. (2002). "Evidence for involvement of a hydrophobic patch in framework region 1 of human V4-34-encoded Igs in recognition of the red blood cell I antigen" . J. Immunol . 169 (7): 3777–82. doi :10.4049/jimmunol.169.7.3777 PMID 12244172 . Yu LC, Twu YC, Chou ML, et al. (2003). "The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts" . Blood . 101 (6): 2081–8. doi :10.1182/blood-2002-09-2693 PMID 12424189 . Inaba N, Hiruma T, Togayachi A, et al. (2003). "A novel I-branching beta-1,6-N-acetylglucosaminyltransferase involved in human blood group I antigen expression" . Blood . 101 (7): 2870–6. doi :10.1182/blood-2002-09-2838 PMID 12468428 . 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 . Zhang T, Haws P, Wu Q (2004). "Multiple variable first exons: a mechanism for cell- and tissue-specific gene regulation" . Genome Res . 14 (1): 79–89. doi :10.1101/gr.1225204 . PMC 314283 PMID 14672974 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Pras E, Raz J, Yahalom V, et al. (2004). "A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts" . Invest. Ophthalmol. Vis. Sci . 45 (6): 1940–5. doi :10.1167/iovs.03-1117 PMID 15161861 . 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 . 
