호모사피엔스 종의 단백질 코딩 유전자
AP1S2 식별자 별칭 AP1S2 외부 ID OMIM : 300629 MGI : 1889383 HomoloGene : 2908 GeneCard : AP1S2 직교체 종 인간 마우스 엔트레스 앙상블 유니프로트 RefSeq(mRNA) RefSeq(단백질) 위치(UCSC) Cr X: 15.83 – 15.85Mb Cr X: 162.69 – 162.72Mb PubMed 검색[3] [4] 위키다타
AP-1 복합소단위 시그마-2 는 인간에서 AP1S2 유전자 에 의해 암호화된 단백질 이다.[5] [6] [7]
함수 어댑터 단백질 복합체 1은 골지 콤플렉스 에 위치한 코팅 된 베시클의 세포질 표면에서 발견되는데, 막 에 대한 클라트린 의 모집과 트랜섬브레인 수용체 의 세포성 꼬리 내에서의 구분 신호의 인식을 모두 매개한다. 이 단지는 큰 2개, 중간 1개, 작은 적응형 서브 유닛 1개로 구성된 헤테토테트라머다 . 이 유전자에 의해 인코딩된 단백질은 이 복합체의 작은 서브 유닛 역할을 하며 적응 단백질 계열의 일원이다. 대체 폴리아데닐화 신호를 이용하는 대본변형 이 이 유전자에 존재한다.[7]
병리학 AP1S2 유전자의 돌연변이는 펫티그루 증후군 을 유발하는데,[8] 안디하테토증 , 수두증 , 댄디 워커 기형 , 발작, 그리고 뇌에 철분이나 칼슘 침적 등 정신지체와 추가적 인 고변성으로 특징지어진다.[9]
참조 ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000182287 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000031367 - 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 .^ Takatsu H, Sakurai M, Shin HW, Murakami K, Nakayama K (September 1998). "Identification and characterization of novel clathrin adaptor-related proteins" . The Journal of Biological Chemistry . 273 (38): 24693–700. doi :10.1074/jbc.273.38.24693 PMID 9733768 . ^ Tarpey PS, Stevens C, Teague J, Edkins S, O'Meara S, Avis T, et al. (December 2006). "Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation" . American Journal of Human Genetics . 79 (6): 1119–24. doi :10.1086/510137 . PMC 1698718 PMID 17186471 . ^ a b "Entrez Gene: AP1S2 adaptor-related protein complex 1, sigma 2 subunit" .^ Huo L, Teng Z, Wang H, Liu X (March 2019). "A novel splice site mutation in AP1S2 gene for X-linked mental retardation in a Chinese pedigree and literature review" . Brain and Behavior . 9 (3): e01221. doi :10.1002/brb3.1221 . PMC 6422709 PMID 30714330 . ^ "Pettigrew syndrome" . Universal Protein Resource (UniProt) .
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