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MYO5B

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维基百科,自由的百科全书
MYO5B
已知的结构
PDB直系同源搜索:PDBe RCSB
标识符
代号MYO5B
扩展标识OMIM606540MGI106598HomoloGene49481GeneCardsMYO5BOMAMYO5B - orthologs
直系同源
物種人類小鼠
Entrez
4645
17919
Ensembl
ENSG00000167306
ENSMUSG00000025885
UniProt
Q9ULV0
P21271
mRNA序列
NM_001080467
NM_008661
​NM_201600
蛋白序列
NP_001073936
无数据
基因位置Chr 18:49.82 – 50.2 MbChr 18:74.57 – 74.9 Mb
PubMed查询[3][4]
维基数据
檢視/編輯人類檢視/編輯小鼠

MYO5B是一个位于人类18号染色体上的基因,编码一种隶属肌凝蛋白超家族的非典型的肌凝蛋白肌凝蛋白-Vb(Myosin-Ia[5][6][7][8]

MYO5B基因的突变会导致细胞极性的异常,进而造成微绒毛包涵体病英语microvillous inclusion disease[8]。此外,也有证据表明MYO5B基因与躁郁症有关[9]

参见

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参考资料

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  1. ^ 1.0 1.1 1.2 GRCh38: Ensembl release 89: ENSG00000167306Ensembl, May 2017
  2. ^ 2.0 2.1 2.2 GRCm38: Ensembl release 89: ENSMUSG00000025885Ensembl, 2017年5月
  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. 
  5. ^ Hasson T, Skowron JF, Gilbert DJ, Avraham KB, Perry WL, Bement WM, Anderson BL, Sherr EH, Chen ZY, Greene LA, Ward DC, Corey DP, Mooseker MS, Copeland NG, Jenkins NA. Mapping of unconventional myosins in mouse and human. Genomics. Sep 1996, 36 (3): 431–9. PMID 8884266. doi:10.1006/geno.1996.0488. 
  6. ^ Swiatecka-Urban A, Talebian L, Kanno E, Moreau-Marquis S, Coutermarsh B, Hansen K, Karlson KH, Barnaby R, Cheney RE, Langford GM, Fukuda M, Stanton BA. Myosin Vb is required for trafficking of the cystic fibrosis transmembrane conductance regulator in Rab11a-specific apical recycling endosomes in polarized human airway epithelial cells. The Journal of Biological Chemistry. Aug 2007, 282 (32): 23725–36. PMID 17462998. doi:10.1074/jbc.M608531200. 
  7. ^ Entrez Gene: MYO5B myosin VB. [2021-05-03]. (原始内容存档于2010-12-05). 
  8. ^ 8.0 8.1 Müller T, Hess MW, Schiefermeier N, Pfaller K, Ebner HL, Heinz-Erian P, Ponstingl H, Partsch J, Röllinghoff B, Köhler H, Berger T, Lenhartz H, Schlenck B, Houwen RJ, Taylor CJ, Zoller H, Lechner S, Goulet O, Utermann G, Ruemmele FM, Huber LA, Janecke AR. MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Nature Genetics. Oct 2008, 40 (10): 1163–5. PMID 18724368. doi:10.1038/ng.225. 
  9. ^ Sklar P, Smoller JW, Fan J, Ferreira MA, Perlis RH, Chambert K, Nimgaonkar VL, McQueen MB, Faraone SV, Kirby A, de Bakker PI, Ogdie MN, Thase ME, Sachs GS, Todd-Brown K, Gabriel SB, Sougnez C, Gates C, Blumenstiel B, Defelice M, Ardlie KG, Franklin J, Muir WJ, McGhee KA, MacIntyre DJ, McLean A, VanBeck M, McQuillin A, Bass NJ, Robinson M, Lawrence J, Anjorin A, Curtis D, Scolnick EM, Daly MJ, Blackwood DH, Gurling HM, Purcell SM. Whole-genome association study of bipolar disorder. Molecular Psychiatry. Jun 2008, 13 (6): 558–69. PMC 3777816可免费查阅. PMID 18317468. doi:10.1038/sj.mp.4002151.