호모 사피엔스 종의 단백질 코드 유전자
헤파란α-글루코사미니드 N-아세틸전달효소 ('아세틸-CoA:헤파란α-D-글루코사미니드 N-아세틸전달효소 ' 및 '아세틸-CoA:α-글루코사미니드 N-아세틸전달효소 '라고도 함)는 인간에서 HTGS [5] [6] [7] 효소 이다.
효소학 에서 이 효소는 전달효소 , 특히 아미노아실기 이외의 아실전달효소군 에 속한다.이는 화학 반응에서 촉매작용 을 한다.
아세틸-CoA +헤파란황산α-D-글루코사미드γ (\displaystyle\rightleftharposamid) CoA 헤파란황산N-아세틸-α-D-글루코사미드 이 효소는 글리코사미노글리칸 분해와 글리칸 구조 분해에 관여합니다. 이 효소를 코드하는 유전자의 돌연변이는 무코다당증 IIIC를 [6]
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000165102 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000037260 - 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 .^ Hrebicek M, Mrazova L, Seyrantepe V, Durand S, Roslin NM, Noskova L, Hartmannova H, Ivanek R, Cizkova A, Poupetova H, Sikora J, Urinovska J, Stranecky V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV (Oct 2006). "Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)" . Am J Hum Genet . 79 (5): 807–19. doi :10.1086/508294 . PMC 1698556 PMID 17033958 . ^ a b Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, Callahan JW, Mahuran DJ (Sep 2006). "Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)" . Am J Hum Genet . 79 (4): 738–44. doi :10.1086/508068 . PMC 1592569 PMID 16960811 . ^ "Entrez Gene: HGSNAT heparan-alpha-glucosaminide N-acetyltransferase" . 추가 정보 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 . 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 . Ausseil J, Loredo-Osti JC, Verner A, et al. (2005). "Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8" . J. Med. Genet . 41 (12): 941–5. doi :10.1136/jmg.2004.021501 . PMC 1735628 PMID 15591281 . Otsuki T, Ota T, Nishikawa T, et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries" . DNA Res . 12 (2): 117–26. doi :10.1093/dnares/12.2.117 PMID 16303743 . Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes" . Genome Res . 16 (1): 55–65. doi :10.1101/gr.4039406 . PMC 1356129 PMID 16344560 . Nusbaum C, Mikkelsen TS, Zody MC, et al. (2006). "DNA sequence and analysis of human chromosome 8" . Nature . 439 (7074): 331–5. doi :10.1038/nature04406 PMID 16421571 . Fedele AO, Filocamo M, Di Rocco M, et al. (2007). "Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online" . Hum. Mutat . 28 (5): 523. doi :10.1002/humu.9488 PMID 17397050 . S2CID 21940082 . Klein U, Kresse H, von Figura K (1978). "Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts" . Proc. Natl. Acad. Sci. U.S.A . 75 (10): 5185–9. doi :10.1073/pnas.75.10.5185 PMC 336290 PMID 33384 . Pohlmann R, Klein U, Fromme HG, von Figura K (1981). "Localisation of acetyl-CoA: alpha-glucosaminide N-acetyltransferase in microsomes and lysosomes of rat liver". Hoppe-Seyler's Z. Physiol. Chem . 362 (9): 1199–207. doi :10.1515/bchm2.1981.362.2.1199 . PMID 7346380 .
