MYOT

Myotilin, also known as MYOT, is a human gene.cite web | title = Entrez Gene: MYOT myotilin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9499| accessdate = ]

PBB_Summary
section_title =
summary_text = Striated muscle sarcomeres are highly organized structures composed of actin (thin) and myosin (thick) filaments that slide past each other during contraction. The integrity of sarcomeres is controlled by a set of structural proteins, among which are titin (TTN; MIM 188840), a giant molecule that contains several immunoglobulin (Ig)-like domains and associates with thin and thick filaments, and alpha-actinin (ACTN1; MIM 102575), an actin cross-linking protein. Mutations in several sarcomeric and sarcolemmal proteins have been shown to result in muscular dystrophy and cardiomyopathy. [supplied by OMIM] cite web | title = Entrez Gene: MYOT myotilin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9499| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Speer MC, Yamaoka LH, Gilchrist JH, "et al." |title=Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q. |journal=Am. J. Hum. Genet. |volume=50 |issue= 6 |pages= 1211–7 |year= 1992 |pmid= 1598902 |doi=
*cite journal | author=Dixon MJ, Read AP, Donnai D, "et al." |title=The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. |journal=Am. J. Hum. Genet. |volume=49 |issue= 1 |pages= 17–22 |year= 1991 |pmid= 1676560 |doi=
*cite journal | author=Bartoloni L, Horrigan SK, Viles KD, "et al." |title=Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31. |journal=Genomics |volume=54 |issue= 2 |pages= 250–5 |year= 1999 |pmid= 9828127 |doi= 10.1006/geno.1998.5579
*cite journal | author=Salmikangas P, Mykkänen OM, Grönholm M, "et al." |title=Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy. |journal=Hum. Mol. Genet. |volume=8 |issue= 7 |pages= 1329–36 |year= 1999 |pmid= 10369880 |doi=
*cite journal | author=Godley LA, Lai F, Liu J, "et al." |title=TTID: A novel gene at 5q31 encoding a protein with titin-like features. |journal=Genomics |volume=60 |issue= 2 |pages= 226–33 |year= 1999 |pmid= 10486214 |doi= 10.1006/geno.1999.5912
*cite journal | author=Hauser MA, Horrigan SK, Salmikangas P, "et al." |title=Myotilin is mutated in limb girdle muscular dystrophy 1A. |journal=Hum. Mol. Genet. |volume=9 |issue= 14 |pages= 2141–7 |year= 2000 |pmid= 10958653 |doi=
*cite journal | author=van der Ven PF, Wiesner S, Salmikangas P, "et al." |title=Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin. |journal=J. Cell Biol. |volume=151 |issue= 2 |pages= 235–48 |year= 2000 |pmid= 11038172 |doi=
*cite journal | author=Hauser MA, Conde CB, Kowaljow V, "et al." |title=myotilin Mutation found in second pedigree with LGMD1A. |journal=Am. J. Hum. Genet. |volume=71 |issue= 6 |pages= 1428–32 |year= 2003 |pmid= 12428213 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Salmikangas P, van der Ven PF, Lalowski M, "et al." |title=Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. |journal=Hum. Mol. Genet. |volume=12 |issue= 2 |pages= 189–203 |year= 2003 |pmid= 12499399 |doi=
*cite journal | author=Battle MA, Maher VM, McCormick JJ |title=ST7 is a novel low-density lipoprotein receptor-related protein (LRP) with a cytoplasmic tail that interacts with proteins related to signal transduction pathways. |journal=Biochemistry |volume=42 |issue= 24 |pages= 7270–82 |year= 2003 |pmid= 12809483 |doi= 10.1021/bi034081y
*cite journal | author=Selcen D, Engel AG |title=Mutations in myotilin cause myofibrillar myopathy. |journal=Neurology |volume=62 |issue= 8 |pages= 1363–71 |year= 2004 |pmid= 15111675 |doi=
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Witt SH, Granzier H, Witt CC, Labeit S |title=MURF-1 and MURF-2 target a specific subset of myofibrillar proteins redundantly: towards understanding MURF-dependent muscle ubiquitination. |journal=J. Mol. Biol. |volume=350 |issue= 4 |pages= 713–22 |year= 2005 |pmid= 15967462 |doi= 10.1016/j.jmb.2005.05.021
*cite journal | author=Gontier Y, Taivainen A, Fontao L, "et al." |title=The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins. |journal=J. Cell. Sci. |volume=118 |issue= Pt 16 |pages= 3739–49 |year= 2006 |pmid= 16076904 |doi= 10.1242/jcs.02484
*cite journal | author=von Nandelstadh P, Grönholm M, Moza M, "et al." |title=Actin-organising properties of the muscular dystrophy protein myotilin. |journal=Exp. Cell Res. |volume=310 |issue= 1 |pages= 131–9 |year= 2005 |pmid= 16122733 |doi= 10.1016/j.yexcr.2005.06.027
*cite journal | author=Rual JF, Venkatesan K, Hao T, "et al." |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209
*cite journal | author=Foroud T, Pankratz N, Batchman AP, "et al." |title=A mutation in myotilin causes spheroid body myopathy. |journal=Neurology |volume=65 |issue= 12 |pages= 1936–40 |year= 2006 |pmid= 16380616 |doi= 10.1212/01.wnl.0000188872.28149.9a
*cite journal | author=Garvey SM, Senderek J, Beckmann JS, "et al." |title=Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM). |journal=Ann. Hum. Genet. |volume=70 |issue= Pt 3 |pages= 414–6 |year= 2006 |pmid= 16674563 |doi= 10.1111/j.1529-8817.2005.00252.x
*cite journal | author=Pénisson-Besnier I, Talvinen K, Dumez C, "et al." |title=Myotilinopathy in a family with late onset myopathy. |journal=Neuromuscul. Disord. |volume=16 |issue= 7 |pages= 427–31 |year= 2006 |pmid= 16793270 |doi= 10.1016/j.nmd.2006.04.009

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes