호모 사피엔스 종의 단백질 코드 유전자
TV 프로그램은 Adam-12를 참조 하십시오. 분해효소 및 메탈로프로테이나아제 도메인 함유 단백질 12(이전의 멜트린)는 ADAM12 [5] [6] 효소 이다.ADAM12에는 두 가지 스플라이스 변형이 있습니다. 긴 형태인 ADAM12-L은 막 통과 영역을 가지며, 짧은 변형인 ADAM12-S는 수용성이며 막 통과 도메인과 세포질 [7]
기능. 이 유전자는 ADAM(분해효소 및 금속단백질가수분해효소 ) 단백질군의 일원을 암호화한다. 이 과의 구성원은 뱀 독 분해물 과 구조적으로 관련된 막 고정 단백질로, 수정, 근육 발달, 신경 발생을 포함한 세포와 세포 매트릭스 상호작용을 포함한 다양한 생물학적 과정에 관여되어 왔다. 이 유전자는 두 개의 교대로 접합된 전사를 가지고 있다: 짧은 분비 형태와 긴 막 결합 형태. 더 짧은 형태는 [8]
임상적 의의 인슐린 성장인자 결합 단백질-3(IGFBP-3)과 결합하는 금속단백질인 ADAM 12는 효과적 인 조기 다운 증후군 표지자 인 것으로 보인다. ADAM 12의 감소된 수치는 빠르면 8주에서 10주 사이에 트리소미 21의 경우에 발견될 수 있다. 모성 혈청 ADAM 12와 임신 8~9주의 PAPP-A 수치는 5%의 거짓 양성률로 다운 증후군에 대한 91%의 검출률을 보였다. 임신 약 12주 동안의 누찰 반투명 데이터가 추가되면 검출률이 97%[9]
ADAM12는 또한 다양 한 암, 고혈압 , 간섬유화 및 [10] 병리 발달에 관여하고 있다. 천식에서 ADAM12는 TNF-alpha 에 [11] 상피 에서 상향 조절된다.
상호 작용 ADAM12는 다음 제품과 상호 작용하는 것 으로 나타났습니다.
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000148848 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000054555 - 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 .^ Gilpin BJ, Loechel F, Mattei MG, Engvall E, Albrechtsen R, Wewer UM (Feb 1998). "A novel, secreted form of human ADAM 12 (meltrin alpha) provokes myogenesis in vivo" . J. Biol. Chem . 273 (1): 157–66. doi :10.1074/jbc.273.1.157 PMID 9417060 . ^ Kveiborg M, Albrechtsen R, Couchman JR, Wewer UM (Jun 2008). "Cellular roles of ADAM12 in health and disease". Int. J. Biochem. Cell Biol . 40 (9): 1685–702. doi :10.1016/j.biocel.2008.01.025 . PMID 18342566 . ^ Yagami-Hiromasa T, Sato T, Kurisaki T, Kamijo K, Nabeshima Y, Fujisawa-Sehara A (1995). "A metalloprotease-disintegrin participating in myoblast fusion". Nature . 377 (6550): 652–6. Bibcode :1995Natur.377..652Y . doi :10.1038/377652a0 . PMID 7566181 . S2CID 4348744 . ^ "Entrez Gene: ADAM12 ADAM metallopeptidase domain 12 (meltrin alpha)" .^ 댄포스의 산부인과, 제10판;저작권©2008 리핀콧 윌리엄스 & 윌킨스; 제7장: 태아진단, 113페이지 ^ Nyren-Erickson EK, Jones JM, Srivastava DK, Mallik S (2013). "A disintegrin and metalloproteinase-12 (ADAM12): function, roles in disease progression, and clinical implications" . Biochim. Biophys. Acta . 1830 (10): 4445–55. doi :10.1016/j.bbagen.2013.05.011 . PMC 3740046 PMID 23680494 . ^ Estrella C, Rocks N, Paulissen G, Quesada-Calvo F, Noel A, Vilain E, Lassalle P, Tillie-Leblond I, Cataldo D, Gosset P (2009). "Role of a disintegrin and metalloprotease-12 in neutrophil recruitment induced by airway epithelium". Am. J. Respir. Cell Mol. Biol . 41 (4): 449–58. doi :10.1165/rcmb.2008-0124OC . PMID 19213876 . ^ Galliano MF, Huet C, Frygelius J, Polgren A, Wewer UM, Engvall E (May 2000). "Binding of ADAM12, a marker of skeletal muscle regeneration, to the muscle-specific actin-binding protein, alpha -actinin-2, is required for myoblast fusion" . J. Biol. Chem . 275 (18): 13933–9. doi :10.1074/jbc.275.18.13933 PMID 10788519 . ^ Shi Z, Xu W, Loechel F, Wewer UM, Murphy LJ (Jun 2000). "ADAM 12, a disintegrin metalloprotease, interacts with insulin-like growth factor-binding protein-3" . J. Biol. Chem . 275 (24): 18574–80. doi :10.1074/jbc.M002172200 PMID 10849447 . ^ Loechel F, Fox JW, Murphy G, Albrechtsen R, Wewer UM (Nov 2000). "ADAM 12-S cleaves IGFBP-3 and IGFBP-5 and is inhibited by TIMP-3". Biochem. Biophys. Res. Commun . 278 (3): 511–5. doi :10.1006/bbrc.2000.3835 . PMID 11095942 . ^ Kang Q, Cao Y, Zolkiewska A (Jul 2001). "Direct interaction between the cytoplasmic tail of ADAM 12 and the Src homology 3 domain of p85alpha activates phosphatidylinositol 3-kinase in C2C12 cells" . J. Biol. Chem . 276 (27): 24466–72. doi :10.1074/jbc.M101162200 PMID 11313349 .
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