Property Summary

NCBI Gene PubMed Count 36
Grant Count 33
R01 Count 11
Funding $3,475,716.83
PubMed Score 85.73
PubTator Score 62.52

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Gene RIF (19)

PMID Text
24928145 Describe the first homozygous mutation in the myotilin gene leading to a novel, autosomal recessive subtype of myofibrillar myopathy (MFM).
21361873 Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19458539 identified a novel MYOT mutation in Exon 9 encoding the second immunoglobulin-like domain in 1 patient with clinically typical limb girdle muscular dystrophy
19418025 study presents high-resolution structure of the first Ig-domain of myotilin determined with solution state NMR spectroscopy; structure of MyoIg1 exhibits I-type Ig-fold
19151983 Data show that in myofibrillar myopathies myotilin exhibites significant alterations in their localization.
19047374 This is the first report of a binding motif common to both the myotilin and the FATZ (calsarcin/myozenin) families that is specific for interactions with Enigma family members.
19027924 new autosomal dominant kindred with generalized symmetrical increase in muscle bulk
17698502 Myotilin S55F mutations may cause a clinically distinct autosomal-dominant late-onset and lower-limb distal myopathic syndrome. MRI helps to depict the topography of fatty muscle atrophy and to detect gene mutation carriers.
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AA Sequence

MFNYERPKHFIQSQNPCGSRLQPPGPETSSFSSQTKQSSIIIQPRQCTEQRFSASSTLSSHITMSSSAFP      1 - 70
ASPKQHAGSNPGQRVTTTYNQSPASFLSSILPSQPDYNSSKIPSAMDSNYQQSSAGQPINAKPSQTANAK     71 - 140
PIPRTPDHEIQGSKEALIQDLERKLKCKDTLLHNGNQRLTYEEKMARRLLGPQNAAAVFQAQDDSGAQDS    141 - 210
QQHNSEHARLQVPTSQVRSRSTSRGDVNDQDAIQEKFYPPRFIQVPENMSIDEGRFCRMDFKVSGLPAPD    211 - 280
VSWYLNGRTVQSDDLHKMIVSEKGLHSLIFEVVRASDAGAYACVAKNRAGEATFTVQLDVLAKEHKRAPM    281 - 350
FIYKPQSKKVLEGDSVKLECQISAIPPPKLFWKRNNEMVQFNTDRISLYQDNTGRVTLLIKDVNKKDAGW    351 - 420
YTVSAVNEAGVTTCNTRLDVTARPNQTLPAPKQLRVRPTFSKYLALNGKGLNVKQAFNPEGEFQRLAAQS    421 - 490
GLYESEEL                                                                  491 - 498
//

Text Mined References (37)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25416956 2014 A proteome-scale map of the human interactome network.
24928145 2014 Novel recessive myotilin mutation causes severe myofibrillar myopathy.
23583979 2013 Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
21361873 2011 Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19458539 2009 Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient.
19418025 2009 Solution structure of the first immunoglobulin domain of human myotilin.
19151983 2009 Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.
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