아세틸콜린 수용체 서브유닛 델타 는 인간에서 CRND 유전자 에 의해 암호화된 단백질 이다.[5]
함수 근육의 아세틸콜린 수용체에는 4가지 유형의 5개의 서브유닛이 있다: 2개의 알파와 1개의 베타, 감마, 델타 서브유닛. 아세틸콜린 결합 후 수용체는 모든 서브유닛에 영향을 미치고 혈장막을 가로지르는 이온전도 채널의 개방으로 이어지는 광범위한 순응 변화를 겪는다.[5]
상호작용 CRND는 콜리네르기 수용체, 니코틴 수용체, 알파 1 과 상호작용 하는 것으로 나타났다.[6] [7]
참고 항목 참조 ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000135902 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000026251 - 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 .^ a b "Entrez Gene: CHRND cholinergic receptor, nicotinic, delta" .^ Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (March 1995). "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor" . Neuron . 14 (3): 635–44. doi :10.1016/0896-6273(95)90320-8 PMID 7695910 . ^ Wang ZZ, Hardy SF, Hall ZW (November 1996). "Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo" . J. Biol. Chem . 271 (44): 27575–84. doi :10.1074/jbc.271.44.27575 PMID 8910344 .
추가 읽기 Colledge M, Froehner SC (1998). "Interaction between the nicotinic acetylcholine receptor and Grb2. Implications for signaling at the neuromuscular junction". Ann. N. Y. Acad. Sci . 841 (1): 17–27. Bibcode :1998NYASA.841...17C . doi :10.1111/j.1749-6632.1998.tb10907.x . PMID 9668219 . S2CID 41992031 . Beeson D, Jeremiah S, West LF, Povey S, Newsom-Davis J (1990). "Assignment of the human nicotinic acetylcholine receptor genes: the alpha and delta subunit genes to chromosome 2 and the beta subunit gene to chromosome 17". Ann. Hum. Genet . 54 (Pt 3): 199–208. doi :10.1111/j.1469-1809.1990.tb00378.x . PMID 2221824 . S2CID 151624 . Luther MA, Schoepfer R, Whiting P, Casey B, Blatt Y, Montal MS, Montal M, Linstrom J (1989). "A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671" . J. Neurosci . 9 (3): 1082–96. doi :10.1523/JNEUROSCI.09-03-01082.1989 PMC 6569985 PMID 2564429 . Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (1995). "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor" . Neuron . 14 (3): 635–44. doi :10.1016/0896-6273(95)90320-8 PMID 7695910 . Pasteris NG, Trask BJ, Sheldon S, Gorski JL (1993). "Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35". Hum. Mol. Genet . 2 (7): 953–9. doi :10.1093/hmg/2.7.953 . PMID 8103404 . Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM (1996). "New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome" . Hum. Mol. Genet . 5 (9): 1217–27. doi :10.1093/hmg/5.9.1217 PMID 8872460 . Wang ZZ, Hardy SF, Hall ZW (1996). "Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo" . J. Biol. Chem . 271 (44): 27575–84. doi :10.1074/jbc.271.44.27575 PMID 8910344 . Brownlow S, Webster R, Croxen R, Brydson M, Neville B, Lin JP, Vincent A, Newsom-Davis J, Beeson D (2001). "Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita" . J. Clin. Invest . 108 (1): 125–30. doi :10.1172/JCI12935 . PMC 209343 PMID 11435464 . Gomez CM, Maselli RA, Vohra BP, Navedo M, Stiles JR, Charnet P, Schott K, Rojas L, Keesey J, Verity A, Wollmann RW, Lasalde-Dominicci J (2002). "Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms" . Ann. Neurol . 51 (1): 102–12. doi :10.1002/ana.10077 . PMC 4841278 PMID 11782989 . Shen XM, Ohno K, Fukudome T, Tsujino A, Brengman JM, De Vivo DC, Packer RJ, Engel AG (2002). "Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation". Neurology . 59 (12): 1881–8. doi :10.1212/01.wnl.0000042422.87384.2f . PMID 12499478 . S2CID 35612575 . 외부 링크 이 기사는 공공영역 에 있는 미국 국립 의학 도서관 의 텍스트를 통합하고 있다.
