Property Summary

NCBI Gene PubMed Count 16
Grant Count 10
R01 Count 10
Funding $1,088,539.1
PubMed Score 16.35
PubTator Score 14.86

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (1)

Disease Z-score Confidence
Myopathy 128 3.074 1.5

Expression

Gene RIF (6)

PMID Text
24177373 Our results implicate MYOZ1 as the causative gene at the chromosome 10q22 locus for AF.
19472918 A large number of variations were found in many of the genes (myozenin 1, gamma-filamin, kinectin-1) in patients with limb-girdle muscular dystrophies and controls.
19472918 Observational study of gene-disease association. (HuGE Navigator)
17434779 Mutations in MYOZ1 and MYOZ2 are at least very rare events as an underlying disease mechanism for idiopathic or familial DCM
17254821 Mutations in PDLIM3 and MYOZ1, encoding myocyte Z line proteins, do not play any significant role in the genetic etiology of idiopathic DCM.
16076904 Our findings provide evidence for a novel connection between the Z-disc protein calsarcin-2 and the sarcolemma via filamins and beta1 integrins.

AA Sequence

MPLSGTPAPNKKRKSSKLIMELTGGGQESSGLNLGKKISVPRDVMLEELSLLTNRGSKMFKLRQMRVEKF      1 - 70
IYENHPDVFSDSSMDHFQKFLPTVGGQLGTAGQGFSYSKSNGRGGSQAGGSGSAGQYGSDQQHHLGSGSG     71 - 140
AGGTGGPAGQAGRGGAAGTAGVGETGSGDQAGGEGKHITVFKTYISPWERAMGVDPQQKMELGIDLLAYG    141 - 210
AKAELPKYKSFNRTAMPYGGYEKASKRMTFQMPKFDLGPLLSEPLVLYNQNLSNRPSFNRTPIPWLSSGE    211 - 280
PVDYNVDIGIPLDGETEEL                                                       281 - 299
//

Text Mined References (16)

PMID Year Title
24177373 2014 Gene expression and genetic variation in human atria.
19472918 2008 Candidate-gene testing for orphan limb-girdle muscular dystrophies.
18157088 2008 Cooperative control of striated muscle mass and metabolism by MuRF1 and MuRF2.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17434779 2007 Mutations in MYOZ1 as well as MYOZ2 encoding the calsarcins are not associated with idiopathic and familial dilated cardiomyopathy.
17254821 2007 Mutations in PDLIM3 and MYOZ1 encoding myocyte Z line proteins are infrequently found in idiopathic dilated cardiomyopathy.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
16076904 2005 The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
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