muscle-eye-brain disease

WordNet

1. look at (同)eyeball
2. a small hole or loop (as in a needle); "the thread wouldnt go through the eye"
3. the organ of sight (同)oculus, optic
4. attention to what is seen; "he tried to catch her eye"
5. good discernment (either visually or as if visually); "she has an eye for fresh talent"; "he has an artists eye"
6. an impairment of health or a condition of abnormal functioning
7. kill by smashing someones skull
8. mental ability; "hes got plenty of brains but no common sense" (同)brainpower, learning_ability, mental capacity, mentality, wit
9. that part of the central nervous system that includes all the higher nervous centers; enclosed within the skull; continuous with the spinal cord (同)encephalon
10. the brain of certain animals used as meat
11. hit on the head
12. make ones way by force; "He muscled his way into the office"
13. animal tissue consisting predominantly of contractile cells (同)muscular_tissue
14. one of the contractile organs of the body (同)musculus
15. authority or power or force (especially when used in a coercive way); "the senators used their muscle to get the party leader to resign"
16. caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

PrepTutorEJDIC

1. 〈C〉(人・動物の器官としての)『目』 / 〈C〉(まぶた・まつ毛・まゆ毛などを含めて,外側からみえる)『目』,目の周り / 〈C〉(目の)虹彩 / 〈C〉『視力』,視覚 / 〈C〉《単数形で》『視線』,まなざし / 〈C〉《しばしば複数形で》警戒(観察,監視)の目 / 〈C〉《通例単数形で》(…に対する)鑑識眼,物を見る目,(…を)見分ける力《+『for』+『名』》 / 〈C〉《しばしば複数形で》物の見方;観点 / 〈C〉目に似たようなもの(じゃがいもの芽・クジャクの羽の眼状の点など) / 〈C〉針の目,めど / 〈C〉(かぎ・ホックの)受け / 〈C〉台風の目 / (好奇・疑いなどの目で)…‘を'じろじろ見る,注意して見る
2. (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
3. 女性の話術芸人 =diseur
4. 『脳』,脳髄 / 《しばしば複数形で》『頭脳』,『知力』 / 《話》秀才,知的指導者 / …‘の'頭を打ち砕く
5. 〈U〉(動物体の組織としての)『筋肉』,筋(きん);〈C〉(体の各部を動かす)筋肉 / 〈U〉力,(特に)筋力,腕力 / 《俗に》(…に)強引に割り込む《+『in on』(『into, through』)+『名』》
6. 病気にかかった / 病的な,不健全な(morbid)

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/11/08 22:39:37」(JST)

wiki en

[Wiki en表示]

Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Identifiers
Symbols	POMGNT1 ; GNTI.2; GnT I.2; LGMD2O; MEB; MGAT1.2; gnT-I.2
External IDs	OMIM: 606822 MGI: 1915523 HomoloGene: 9806 GeneCards: POMGNT1 Gene
EC number	2.4.1.-
Gene ontology Molecular function • protein binding • beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity Cellular component • Golgi membrane • integral component of membrane Biological process • protein O-linked glycosylation Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	55624	68273
Ensembl	ENSG00000085998	ENSMUSG00000028700
UniProt	Q8WZA1	Q91X88
RefSeq (mRNA)	NM_001243766	NM_001290658
RefSeq (protein)	NP_001230695	NP_001277587
Location (UCSC)	Chr 1: 46.19 – 46.22 Mb	Chr 4: 116.12 – 116.16 Mb
PubMed search	[1]	[2]

Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 is an enzyme that in humans is encoded by the POMGNT1 gene.

Function

The product of the POMGNT1 gene, protein O-mannose beta-1,2-N-acetylglucosaminyltransferase, participates in O-mannosyl glycan synthesis. It is mutant in muscle-eye-brain disease (MIM 253280).[supplied by OMIM]

References

Notes

Further reading

• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298. 
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149. 
• Cormand B, Avela K, Pihko H, et al. (1999). "Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping". Am. J. Hum. Genet. 64 (1): 126–35. doi:10.1086/302206. PMC 1377710. PMID 9915951. 
• Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800. 
• Yoshida A, Kobayashi K, Manya H, et al. (2002). "Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1". Dev. Cell 1 (5): 717–24. doi:10.1016/S1534-5807(01)00070-3. PMID 11709191. 
• Triki C, Louhichi N, Méziou M, et al. (2003). "Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2, FCMD, MEB and CMD1B loci, in three Tunisian patients". Neuromuscul. Disord. 13 (1): 4–12. doi:10.1016/S0960-8966(02)00188-8. PMID 12467726. 
• 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. 
• Taniguchi K, Kobayashi K, Saito K, et al. (2003). "Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease". Hum. Mol. Genet. 12 (5): 527–34. doi:10.1093/hmg/ddg043. PMID 12588800. 
• Manya H, Sakai K, Kobayashi K, et al. (2003). "Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease". Biochem. Biophys. Res. Commun. 306 (1): 93–7. doi:10.1016/S0006-291X(03)00924-0. PMID 12788071. 
• Clark HF, Gurney AL, Abaya E, et al. (2003). "The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309. 
• 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. 
• Akasaka-Manya K, Manya H, Kobayashi K, et al. (2004). "Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1". Biochem. Biophys. Res. Commun. 320 (1): 39–44. doi:10.1016/j.bbrc.2004.05.129. PMID 15207699. 
• Vervoort VS, Holden KR, Ukadike KC, et al. (2004). "POMGnT1 gene alterations in a family with neurological abnormalities". Ann. Neurol. 56 (1): 143–8. doi:10.1002/ana.20172. PMID 15236414. 
• Diesen C, Saarinen A, Pihko H, et al. (2005). "POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease". J. Med. Genet. 41 (10): e115. doi:10.1136/jmg.2004.020701. PMC 1735594. PMID 15466003. 
• 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. 
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560. 
• Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414. 
• Abbott KL, Troupe K, Lee I, Pierce M (2006). "Integrin-dependent neuroblastoma cell adhesion and migration on laminin is regulated by expression levels of two enzymes in the O-mannosyl-linked glycosylation pathway, PomGnT1 and GnT-Vb". Exp. Cell Res. 312 (15): 2837–50. doi:10.1016/j.yexcr.2006.05.022. PMID 16857188. 

External links

• GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. 眼咽頭型、遠位型，および先天性筋ジストロフィー oculopharyngeal distal and congenital muscular dystrophies
• 2. 新生児における筋緊張低下を引き起こす末梢神経および筋肉の障害に関する概要 overview of peripheral nerve and muscle disorders causing hypotonia in the newborn
• 3. 肢帯型筋ジストロフィー limb girdle muscular dystrophy
• 4. 患者情報：筋ジストロフィーの概要（詳細） overview of muscular dystrophies beyond the basics

English Journal

• RPTPζ/phosphacan is abnormally glycosylated in a model of muscle-eye-brain disease lacking functional POMGnT1.

• Dwyer CA, Baker E, Hu H, Matthews RT.SourceThe Department of Neuroscience and Physiology, SUNY Upstate Medical University, Syracuse, NY 13210, USA. wrighchr@upstate.edu
• Neuroscience.Neuroscience.2012 Sep 18;220:47-61. Epub 2012 Jun 19.
• Congenital muscular dystrophies (CMDs) with associated brain abnormalities are a group of disorders characterized by muscular dystrophy and brain and eye abnormalities that are frequently caused by mutations in known or putative glycotransferases involved in protein O-mannosyl glycosylation. Previou
• PMID 22728091

Japanese Journal

• Functional and heterologous expression of human protein O-linked mannose β-1,2-N-acetylglucosaminyltransferase 1 in zebrafish(METHODS)

• Avsar-Ban Eriko,Ishikawa Hisayoshi,Akiyama Shin'ichi,Manya Hiroshi,Endo Tamao,Tamaru Yutaka
• Journal of bioscience and bioengineering 114(2), 237-239, 2012-08
• … To overcome this limitation, here, we focused on a novel host-vector system in zebrafish for the expression of human protein O-linked mannose β-1,2-N-acetylglu-cosaminyltransferase I (hPOMGnT1) which is related to muscle-eye-brain disease. …
• NAID 110009495436

• Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome

• BELTRAN-VALERO DE BARNARBE D
• J Medical Genet 41, 61, 2006
• NAID 30021654672

Related Links

• Muscle eye brain disease | Disease | Overview | Office of Rare ...

Muscle eye brain disease is a rare form of congenital muscular dystrophy. [1] Individuals with this condition are born with muscle weakness (hypotonia), severe nearsightedness (myopia), glaucoma, and brain ...

• Muscle-eye-brain disease (MEB) - National Center for ...

1. Brain Dev. 1989;11(3):147-53. Muscle-eye-brain disease (MEB) Santavuori P, Somer H, Sainio K, Rapola J, Kruus S, Nikitin T, Ketonen L, Leisti J. Comment in Brain Dev. 1990;12(2):274. Clinical features of a rare congenital ...

Related Pictures

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★リンクテーブル★

リンク元	「MEB」「筋・眼・脳病」
関連記事	「disease」「brain disease」「muscle」「brain」「eye」

「MEB」

　　[★]

筋・眼・脳病

関

muscle-eye-brain disease

「筋・眼・脳病」

　　[★]

英

muscle-eye-brain disease、MEB

「disease」

　　[★]

• n.

疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)

特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)

• something that is very wrong with people's attitudes, way of life or with society.

関

ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness

• 注意

disease ≠ illness ≠ disorder

　 　 　

「brain disease」

　　[★]

• 脳疾患

関

brain disorder、brain pathology、encephalopathia、encephalopathy

「muscle」

　　[★]

• n.

• 筋肉

　 　 　 　 　

「brain」

　　[★] 脳

　 　 　 　 　 　

「eye」

　　[★] 眼