FRMD7

FRMD7
식별자
에일리어스	7을 포함하는 FRMD7, NYS, NYS1, XI판, FERM 도메인
외부 ID	OMIM : 300628 MGI : 2686379 HomoloGene : 18855 GenCard : FRMD7
유전자 위치(마우스)
크르.	X염색체(쥐)
끝.	50,031,587 bp
RNA발현패턴
	상단 표시 위치:
	아킬레스건; ; 신장; ; 근막; ; 평활근 조직; ; 활막; ; 활액관절; ; 상행 대동맥; ; 메타네프로스; ; 간; ; 나팔관;
	추가 참조 표현식 데이터
	없음
유전자 존재론
분자 함수	분자 기능;
셀룰러 컴포넌트	세포 투영; 세포골격; 뉴런 투영; 신경세포체; 성장 원뿔; 세포외 공간;
생물학적 과정	소량 GTPase 매개 신호 전달의 양성 조절; 응력 섬유 어셈블리의 부조절; 라멜리포듐 조립체 양성 조절; 단백질 결합의 음성 조절; 신경계의 발달; 뉴런 투영 발달 조절;
	출처:아미고 / QuickGO
맞춤법
	90167
	385354
	없음
	ENSMUSG000036131
	Q6ZUT3
	A2AD83
	NM_001306193; NM_194277
	NM_001190332
	NP_001293122; NP_919253
	NP_001177261
	위키데이터
인간 보기/편집	마우스 표시/편집

FERM 도메인 함유 단백질 7은 FRMD7 ^[4]^[5]^[6]유전자에 의해 인체 내에서 부호화되는 단백질이다.

레퍼런스

^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000036131 - 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.
^ Gutmann DH, Brooks ML, Emanuel BS, McDonald-McGinn DM, Zackai EH (Aug 1991). "Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus". Am J Med Genet. 39 (2): 167–9. doi:10.1002/ajmg.1320390210. PMID 2063919.
^ Tarpey P, Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot CJ, Roberts EO, Awan M, Surendran M, McLean RJ, Reinecke RD, Langmann A, Lindner S, Koch M, Jain S, Woodruff G, Gale RP, Degg C, Droutsas K, Asproudis I, Zubcov AA, Pieh C, Veal CD, Machado RD, Backhouse OC, Baumber L, Constantinescu CS, Brodsky MC, Hunter DG, Hertle RW, Read RJ, Edkins S, O'Meara S, Parker A, Stevens C, Teague J, Wooster R, Futreal PA, Trembath RC, Stratton MR, Raymond FL, Gottlob I (Oct 2006). "Mutations in a novel member of the FERM family, FRMD7 cause X-linked idiopathic congenital nystagmus (NYS1)". Nat Genet. 38 (11): 1242–4. doi:10.1038/ng1893. PMC 2592600. PMID 17013395.
^ "Entrez Gene: FRMD7 FERM domain containing 7".

외부 링크

FRMD7 관련 유아 안진에서의 GeneReviews/NIH/NCBI/UW 엔트리

추가 정보

Cabot A, Rozet JM, Gerber S, et al. (2000). "A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3". Am. J. Hum. Genet. 64 (4): 1141–6. doi:10.1086/302324. PMC 1377838. PMID 10090899.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325–37. Bibcode:2005Natur.434..325R. doi:10.1038/nature03440. PMC 2665286. PMID 15772651.
Guo X, Li S, Jia X, et al. (2006). "Linkage analysis of two families with X-linked recessive congenital motor nystagmus". J. Hum. Genet. 51 (1): 76–80. doi:10.1007/s10038-005-0316-y. PMID 16240070.
Schorderet DF, Tiab L, Gaillard MC, et al. (2007). "Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online". Hum. Mutat. 28 (5): 525. doi:10.1002/humu.9492. PMID 17397053.
Zhang Q, Xiao X, Li S, Guo X (2007). "FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus". Mol. Vis. 13: 1375–8. PMID 17768376.
Self JE, Shawkat F, Malpas CT, et al. (2007). "Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus". Arch. Ophthalmol. 125 (9): 1255–63. doi:10.1001/archopht.125.9.1255. PMID 17846367.
Zhang B, Liu Z, Zhao G, et al. (2007). "Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus". Mol. Vis. 13: 1674–9. PMID 17893669.
Kaplan Y, Vargel I, Kansu T, et al. (2008). "Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene" (PDF). The British Journal of Ophthalmology. 92 (1): 135–41. doi:10.1136/bjo.2007.128157. hdl:11693/23235. PMID 17962394. S2CID 22918227.
Shiels A, Bennett TM, Prince JB, Tychsen L (2008). "X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7". Mol. Vis. 13: 2233–41. PMID 18087240.

인간 X 염색체 및/또는 그와 관련된 단백질의 유전자에 대한 이 기사는 스텁이다.위키피디아를 확장함으로써 위키피디아를 도울 수 있습니다.

[refGRCm38Ensembl-1] GRCm38: 앙상블 릴리즈 89: ENSMUSG000036131 - 앙상블, 2017년 5월

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid2063919-4] Gutmann DH, Brooks ML, Emanuel BS, McDonald-McGinn DM, Zackai EH (Aug 1991). "Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus". Am J Med Genet. 39 (2): 167–9. doi:10.1002/ajmg.1320390210. PMID 2063919.

[pmid17013395-5] Tarpey P, Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot CJ, Roberts EO, Awan M, Surendran M, McLean RJ, Reinecke RD, Langmann A, Lindner S, Koch M, Jain S, Woodruff G, Gale RP, Degg C, Droutsas K, Asproudis I, Zubcov AA, Pieh C, Veal CD, Machado RD, Backhouse OC, Baumber L, Constantinescu CS, Brodsky MC, Hunter DG, Hertle RW, Read RJ, Edkins S, O'Meara S, Parker A, Stevens C, Teague J, Wooster R, Futreal PA, Trembath RC, Stratton MR, Raymond FL, Gottlob I (Oct 2006). "Mutations in a novel member of the FERM family, FRMD7 cause X-linked idiopathic congenital nystagmus (NYS1)". Nat Genet. 38 (11): 1242–4. doi:10.1038/ng1893. PMC 2592600. PMID 17013395.

[entrez-6] "Entrez Gene: FRMD7 FERM domain containing 7".

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FRMD7

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