시스테인이 풍부한 운동뉴런 1단백질 은 CRIM1유전자 에 [5] [6] 단백질 이다.
기능. 운동 뉴런은 세포 패턴 형성 시작과 세포 분화가 시작된 후에 나타나는 가장 초기의 뉴런 중 하나이다. 분화는 복부에서 도르래로 일어나며, 적어도 부분적으로 복부에서 발현되는 소닉 헤지호그 단백질( SHH; MIM 600725)의 농도에 의해 매개된다. 골형성 단백질(예를 들어 BMP4 ; MIM 112262) 및 형질전환인자 베타(예를 들어 TGFB1 ; MIM 190180) 패밀리와 같은 배측으로 발현되는 인자는 이러한 뉴런의 유도를 억제할 수 있다. CRIM1은 운동뉴런 분화와 [5] [6]
임상적 의의 Crim1 KST264 하형 생쥐에 의해 증명된 Crim1 기능의 상실은 유두저형성증, 기능성 요로폐색증, 내피 내 이소성 콜라겐 축적 및 (내피) 에피 에 의해 부분적으로 기인하는 튜브 간질 섬유증 등의 병리와 함께 만성 신장 질환의 시작을 초래했다. 장간막 [7] [8] 전이
레퍼런스 ^ a b c ENSG00000150938 GRCh38: 앙상블 릴리즈 89: ENSG00000277354, ENSG00000150938 - Ensembl , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000024074 - 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 Kolle G, Georgas K, Holmes GP, Little MH, Yamada T (Feb 2000). "CRIM1, a novel gene encoding a cysteine-rich repeat protein, is developmentally regulated and implicated in vertebrate CNS development and organogenesis" . Mechanisms of Development . 90 (2): 181–93. doi :10.1016/S0925-4773(99)00248-8 PMID 10642437 . S2CID 6529349 . ^ a b "Entrez Gene: CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)" .^ Phua YL, Martel N, Pennisi DJ, Little MH, Wilkinson L (Apr 2013). "Distinct sites of renal fibrosis in Crim1 mutant mice arise from multiple cellular origins". The Journal of Pathology . 229 (5): 685–96. doi :10.1002/path.4155 . PMID 23224993 . S2CID 22837861 . ^ Wilkinson L, Kurniawan ND, Phua YL, Nguyen MJ, Li J, Galloway GJ, Hashitani H, Lang RJ, Little MH (Aug 2012). "Association between congenital defects in papillary outgrowth and functional obstruction in Crim1 mutant mice" (PDF) . The Journal of Pathology . 227 (4): 499–510. doi :10.1002/path.4036 . PMID 22488641 . S2CID 2777257 . 외부 링크 추가 정보 Wilkinson L, Kurniawan ND, Phua YL, Nguyen MJ, Li J, Galloway GJ, Hashitani H, Lang RJ, Little MH (Aug 2012). "Association between congenital defects in papillary outgrowth and functional obstruction in Crim1 mutant mice" (PDF) . The Journal of Pathology . 227 (4): 499–510. doi :10.1002/path.4036 . PMID 22488641 . S2CID 2777257 . Phua YL, Martel N, Pennisi DJ, Little MH, Wilkinson L (Apr 2013). "Distinct sites of renal fibrosis in Crim1 mutant mice arise from multiple cellular origins". The Journal of Pathology . 229 (5): 685–96. doi :10.1002/path.4155 . PMID 23224993 . S2CID 22837861 . Pennisi DJ, Wilkinson L, Kolle G, Sohaskey ML, Gillinder K, Piper MJ, McAvoy JW, Lovicu FJ, Little MH (Feb 2007). "Crim1KST264/KST264 mice display a disruption of the Crim1 gene resulting in perinatal lethality with defects in multiple organ systems" . Developmental Dynamics . 236 (2): 502–11. doi :10.1002/dvdy.21015 PMID 17106887 . S2CID 1563138 . Zhang Z, Henzel WJ (Oct 2004). "Signal peptide prediction based on analysis of experimentally verified cleavage sites" . Protein Science . 13 (10): 2819–24. doi :10.1110/ps.04682504 . PMC 2286551 PMID 15340161 . Wilkinson L, Kolle G, Wen D, Piper M, Scott J, Little M (Sep 2003). "CRIM1 regulates the rate of processing and delivery of bone morphogenetic proteins to the cell surface" . The Journal of Biological Chemistry . 278 (36): 34181–8. doi :10.1074/jbc.M301247200 PMID 12805376 . Glienke J, Sturz A, Menrad A, Thierauch KH (Dec 2002). "CRIM1 is involved in endothelial cell capillary formation in vitro and is expressed in blood vessels in vivo" . Mechanisms of Development . 119 (2): 165–75. doi :10.1016/S0925-4773(02)00355-6 PMID 12464430 . S2CID 7308653 . Georgas K, Bowles J, Yamada T, Koopman P, Little MH (Dec 2000). "Characterisation of Crim1 expression in the developing mouse urogenital tract reveals a sexually dimorphic gonadal expression pattern" . Developmental Dynamics . 219 (4): 582–7. doi :10.1002/1097-0177(2000)9999:9999<::AID-DVDY1072>3.0.CO;2-I PMID 11084657 . 
