- DMWD (gene)
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Dystrophia myotonica, WD repeat containing Identifiers Symbols DMWD; D19S593E; DMR-N9; DMRN9; gene59 External IDs OMIM: 609857 MGI: 94907 HomoloGene: 22559 GeneCards: DMWD Gene Gene Ontology Molecular function • molecular_function Cellular component • cellular_component Biological process • meiosis Sources: Amigo / QuickGO RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 1762 13401 Ensembl ENSG00000185800 ENSMUSG00000030410 UniProt Q09019 Q8K0I9 RefSeq (mRNA) NM_004943 NM_010058.2 RefSeq (protein) NP_004934 NP_034188.2 Location (UCSC) Chr 19:
46.29 – 46.3 MbChr 7:
19.66 – 19.67 MbPubMed search [1] [2] Dystrophia myotonica WD repeat-containing protein is a protein that in humans is encoded by the DMWD gene.[1][2]
References
- ^ Jansen G, Mahadevan M, Amemiya C, Wormskamp N, Segers B, Hendriks W, O'Hoy K, Baird S, Sabourin L, Lennon G, et al. (Jun 1993). "Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs". Nat Genet 1 (4): 261–6. doi:10.1038/ng0792-261. PMID 1302022.
- ^ "Entrez Gene: DMWD dystrophia myotonica, WD repeat containing". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1762.
Further reading
- Groenen P, Wieringa B (1999). "Expanding complexity in myotonic dystrophy.". Bioessays 20 (11): 901–12. doi:10.1002/(SICI)1521-1878(199811)20:11<901::AID-BIES5>3.0.CO;2-0. PMID 9872056.
- Wansink DG, Wieringa B (2004). "Transgenic mouse models for myotonic dystrophy type 1 (DM1).". Cytogenet. Genome Res. 100 (1–4): 230–42. doi:10.1159/000072859. PMID 14526185.
- Jansen G, Bächner D, Coerwinkel M, et al. (1995). "Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus". Hum. Mol. Genet. 4 (5): 843–52. doi:10.1093/hmg/4.5.843. PMID 7633444.
- Shaw DJ, McCurrach M, Rundle SA, et al. (1994). "Genomic organization and transcriptional units at the myotonic dystrophy locus". Genomics 18 (3): 673–9. doi:10.1016/S0888-7543(05)80372-6. PMID 7905855.
- Mahadevan MS, Amemiya C, Jansen G, et al. (1993). "Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene". Hum. Mol. Genet. 2 (3): 299–304. doi:10.1093/hmg/2.3.299. PMID 8499920.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- Alwazzan M, Newman E, Hamshere MG, Brook JD (1999). "Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat". Hum. Mol. Genet. 8 (8): 1491–7. doi:10.1093/hmg/8.8.1491. PMID 10400997.
- Eriksson M, Hedberg B, Carey N, Ansved T (2001). "Decreased DMPK transcript levels in myotonic dystrophy 1 type IIA muscle fibers". Biochem. Biophys. Res. Commun. 286 (5): 1177–82. doi:10.1006/bbrc.2001.5516. PMID 11527424.
- Frisch R, Singleton KR, Moses PA, et al. (2001). "Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy". Mol. Genet. Metab. 74 (1–2): 281–91. doi:10.1006/mgme.2001.3229. PMID 11592825.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- Grimwood J, Gordon LA, Olsen A, et al. (2004). "The DNA sequence and biology of human chromosome 19". Nature 428 (6982): 529–35. doi:10.1038/nature02399. PMID 15057824.
- Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=514446.
Categories:- Human proteins
- Chromosome 19 gene stubs
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