LMX1B

LMX1B
식별자
에일리어스	LMX1B, LMX1.2, NPS1, LIM 호메오박스 전사 팩터1 베타, FSGS10
외부 ID	OMIM: 602575 MGI: 1100513 HomoloGene: 55648 GeneCard: LMX1B
유전자 위치(인간)
크르.	9번 염색체(인간)
끝.	126,701,032 bp
유전자 위치(마우스)
크르.	2번 염색체(마우스)
끝.	33,530,620 bp
RNA발현패턴
	상단 표시 위치:
	상부 신경; ; 신장; ; 복부 피부; ; 흑색 실체; ; 침샘; ; 좌심실; ; 흉선; ; 소침샘; ; S상 결장; ; 신장 피질;
	추가 참조 표현식 데이터
	없음
유전자 존재론
분자 함수	GO:0001131, GO:000115, GO:0001130, GO:0001204 DNA결합전사인자액티비티; DNA결합; 배열특이적 DNA결합; RNA중합효소II전사조절영역배열특이적DNA결합; GO:0001948 단백질 결합; 금속 이온 결합; GO:0000983 RNA 중합효소II 일반전사 개시인자 활성; GO:0001200, GO:0001133, GO:0001201 DNA결합전사인자활성, RNA중합효소II 특이적;
셀룰러 컴포넌트	핵;
생물학적 과정	다세포 생물 발달; 도파민 작동성 뉴런 분화; 자궁 내 태아 발달; 전사조절, DNA템플릿화; 등/복부 패턴 형성; 전사, DNA 템플릿; 뉴런 분화; RNA중합효소II에 의한 전사의 양성 조절;
	출처:아미고 / QuickGO
맞춤법
	4010
	16917
	ENSG00000136944
	ENSMUSG000038765
	O60663
	O88609
	NM_002316; NM_001174146; NM_001174147
	NM_010725
	NP_001167617; NP_001167618; NP_002307
	NP_034855
	위키데이터
인간 보기/편집	마우스 표시/편집

LMX1B라고도 알려진 LIM 호메오박스 전사인자 1-베타는 LMX1B ^[5]^[6]유전자에 의해 인체에서 암호화되는 단백질이다.

기능.

LMX1B는 척추동물 ^[7]사지의 도르소 복부 패턴화에 중심적인 역할을 하는 LIM 호메오박스 전사 인자이다.

임상적 의의

LMX1B 유전자의 기능상실 돌연변이는 손톱-파텔라 ^[8]증후군과 관련이 있다.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG00000136944 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000038765 - 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.
^ "Entrez Gene: LMX1B LIM homeobox transcription factor 1, beta".
^ Iannotti CA, Inoue H, Bernal E, Aoki M, Liu L, Donis-Keller H, German MS, Permutt MA (December 1997). "Identification of a human LMX1 (LMX1.1)-related gene, LMX1.2: tissue-specific expression and linkage mapping on chromosome 9". Genomics. 46 (3): 520–4. doi:10.1006/geno.1997.5075. PMID 9441763.
^ Schweizer H, Johnson RL, Brand-Saberi B (April 2004). "Characterization of migration behavior of myogenic precursor cells in the limb bud with respect to Lmx1b expression". Anat. Embryol. 208 (1): 7–18. doi:10.1007/s00429-003-0373-y. PMID 15007643. S2CID 24982408.
^ Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Johnson RL, Lee B (May 1998). "Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome". Nat. Genet. 19 (1): 47–50. doi:10.1038/ng0598-47. PMID 9590287. S2CID 2329971.

추가 정보

Millá E, Hernan I, Gamundi MJ, et al. (2007). "Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma". Mol. Vis. 13: 639–48. PMC 2669506. PMID 17515884.
Oshimo T, Fukai K, Higashi N, et al. (2008). "A novel LMX1B nonsense mutation in a family with nail-patella syndrome". J. Dermatol. Sci. 52 (1): 57–60. doi:10.1016/j.jdermsci.2008.04.014. PMID 18562181.
Ham JH, Shin SJ, Joo KR, et al. (2009). "A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome". The Korean Journal of Internal Medicine. 24 (3): 274–8. doi:10.3904/kjim.2009.24.3.274. PMC 2732789. PMID 19721866.
Prichard ZM, Jorm AF, Mackinnon A, Easteal S (2007). "Association analysis of 15 polymorphisms within 10 candidate genes for antisocial behavioural traits". Psychiatr. Genet. 17 (5): 299–303. doi:10.1097/YPG.0b013e32816ebc9e. hdl:1885/34438. PMID 17728669. S2CID 10358616.
Dunston JA, Lin S, Park JW, et al. (2005). "Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome". Ann. Hum. Genet. 69 (Pt 1): 1–8. doi:10.1046/j.1529-8817.2004.00133.x. PMID 15638822. S2CID 9205742.
Bongers EM, de Wijs IJ, Marcelis C, et al. (2008). "Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man". Eur. J. Hum. Genet. 16 (10): 1240–4. doi:10.1038/ejhg.2008.83. PMID 18414507.
Morello R, Lee B (2002). "Insight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytes". Pediatr. Res. 51 (5): 551–8. doi:10.1203/00006450-200205000-00002. PMID 11978876.
Zarzecki M, Nieszporek T, Chudek J, Wiecek A (2006). "[The nail-patella syndrome: rare genetically determined cause of proteinuria]". Pol. Arch. Med. Wewn. 116 (6): 1192–9. PMID 18634531.
Rascle A, Neumann T, Raschta AS, et al. (2009). "The LIM-homeodomain transcription factor LMX1B regulates expression of NF-kappa B target genes". Exp. Cell Res. 315 (1): 76–96. doi:10.1016/j.yexcr.2008.10.012. PMID 18996370.
Lin Y, Zhao J, Chen S, et al. (2008). "A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family". Bone. 43 (3): 591–5. doi:10.1016/j.bone.2008.04.025. PMID 18595794.
Heidet L, Bongers EM, Sich M, et al. (2003). "In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys". Am. J. Pathol. 163 (1): 145–55. doi:10.1016/S0002-9440(10)63638-3. PMC 1868155. PMID 12819019.
Bergman O, Híkansson A, Westberg L, et al. (2009). "Do polymorphisms in transcription factors LMX1A and LMX1B influence the risk for Parkinson's disease?". J Neural Transm. 116 (3): 333–8. doi:10.1007/s00702-009-0187-z. PMID 19189040. S2CID 12174130.
Park S, Jamshidi Y, Vaideanu D, et al. (2009). "Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes". Invest. Ophthalmol. Vis. Sci. 50 (4): 1522–30. doi:10.1167/iovs.08-2483. PMID 18952915.
Harendza S, Stahl RA, Schneider A (2009). "The transcriptional regulation of podocin (NPHS2) by Lmx1b and a promoter single nucleotide polymorphism". Cell. Mol. Biol. Lett. 14 (4): 679–91. doi:10.2478/s11658-009-0026-0. PMC 6275688. PMID 19562271.
Mishima Y, Lindgren AG, Chizhikov VV, et al. (2009). "Overlapping function of Lmx1a and Lmx1b in anterior hindbrain roof plate formation and cerebellar growth". J. Neurosci. 29 (36): 11377–84. doi:10.1523/JNEUROSCI.0969-09.2009. PMC 2765661. PMID 19741143.
Bongers EM, Huysmans FT, Levtchenko E, et al. (2005). "Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy". Eur. J. Hum. Genet. 13 (8): 935–46. doi:10.1038/sj.ejhg.5201446. PMID 15928687.
Fuchs J, Mueller JC, Lichtner P, et al. (2009). "The transcription factor PITX3 is associated with sporadic Parkinson's disease". Neurobiol. Aging. 30 (5): 731–8. doi:10.1016/j.neurobiolaging.2007.08.014. PMID 17905480. S2CID 26905615.
Finsterer J, Stöllberger C (2003). "LMX1B 17-bp deletion and A3243G mtDNA transition in a previously described patient". Eur. Neurol. 49 (3): 186–7. doi:10.1159/000069078. PMID 12646768. S2CID 37995437.
Marini M, Bongers EM, Cusano R, et al. (2003). "Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome". Int. J. Mol. Med. 12 (1): 79–82. doi:10.3892/ijmm.12.1.79. PMID 12792813.
Balci S, Engiz O (2007). "Co-occurrence of familial Mediterranean fever (FMF) heterozygote mutation and nail-patella syndrome (NPS) in 3 members of a family with LMX1B mutation analysis". Genet. Couns. 18 (2): 259–62. PMID 17710881.

외부 링크

인간 염색체 9번 유전자에 대한 이 기사는 짧은 글이다.위키피디아를 확장함으로써 위키피디아를 도울 수 있습니다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG00000136944 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000038765 - 앙상블, 2017년 5월

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

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

[entrez-5] "Entrez Gene: LMX1B LIM homeobox transcription factor 1, beta".

[pmid9441763-6] Iannotti CA, Inoue H, Bernal E, Aoki M, Liu L, Donis-Keller H, German MS, Permutt MA (December 1997). "Identification of a human LMX1 (LMX1.1)-related gene, LMX1.2: tissue-specific expression and linkage mapping on chromosome 9". Genomics. 46 (3): 520–4. doi:10.1006/geno.1997.5075. PMID 9441763.

[pmid15007643-7] Schweizer H, Johnson RL, Brand-Saberi B (April 2004). "Characterization of migration behavior of myogenic precursor cells in the limb bud with respect to Lmx1b expression". Anat. Embryol. 208 (1): 7–18. doi:10.1007/s00429-003-0373-y. PMID 15007643. S2CID 24982408.

[pmid9590287-8] Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Johnson RL, Lee B (May 1998). "Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome". Nat. Genet. 19 (1): 47–50. doi:10.1038/ng0598-47. PMID 9590287. S2CID 2329971.

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LMX1B

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기능.

임상적 의의

레퍼런스

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