α-만노시다아제 2는 인간 에서 MAN2A1 [5] [6] [7] 효소 이다.
기능. 이 유전자는 글리코실 가수분해효소 38족에 속하는 단백질을 암호화한다. 이 단백질은 골지 장치에 위치하며 아스파라긴 연결 올리고당(N-연결 글리코실화 ) 성숙 경로의 마지막 가수분해 단계를 촉매합니다. 이 유전자의 마우스 상동체 돌연변이는 인간의 전신 홍반성 루푸스 와 [7] 자가면역질환 을 일으키는 것으로 나타났다.
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000112893 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000024085 - 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 .^ Moremen KW, Robbins PW (Dec 1991). "Isolation, characterization, and expression of cDNAs encoding murine alpha-mannosidase II, a Golgi enzyme that controls conversion of high mannose to complex N-glycans" . The Journal of Cell Biology . 115 (6): 1521–34. doi :10.1083/jcb.115.6.1521 . PMC 2289207 PMID 1757461 . ^ Oka T, Ungar D, Hughson FM, Krieger M (May 2004). "The COG and COPI complexes interact to control the abundance of GEARs, a subset of Golgi integral membrane proteins" . Molecular Biology of the Cell . 15 (5): 2423–35. doi :10.1091/mbc.E03-09-0699 . PMC 404034 PMID 15004235 . ^ a b "Entrez Gene: MAN2A1 mannosidase, alpha, class 2A, member 1" .
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