SYNM (Synemin) is a Protein Coding gene. Diseases associated with SYNM include Alexander Disease and Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy.Among its related pathways are COPI-independent Golgi-to-ER retrograde traffic.Gene Ontology (GO) annotations related to this gene include structural molecule activity and structural constituent of muscle.
Synemin, also known as desmuslin, is a protein that in humans is encoded by the SYNM gene. [5] Synemin is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin ...
This review analyzes data concerning patients with cardiomyopathies or skeletal myopathies associated with a variation in the intermediate filament (IF) synemin gene (SYNM), also referred to as desmuslin (DMN). Molecular studies demonstrate that synemin copolymerizes with desmin and vimentin IF and interacts with vinculin, α-actinin, α-dystrobrevin, dystrophin, talin, and zyxin. It has been ...
Synemin is a target of myocardin family coactivators. Title: Identification of the intermediate filament protein synemin/SYNM as a target of myocardin family coactivators. a novel heterozygous missense mutation p. (Trp538Arg) of SYNM was identified and cosegregated with the affected members in a Chinese family.
Synemin. Gene namei. Official gene symbol, which is typically a short form of the gene name, according to HGNC. SYNM (DMN, KIAA0353, SYN) Protein classi. Assigned HPA protein class (es) for the encoded protein (s). Protein evidence. Evidence at protein level ( all genes) Number of transcriptsi.
SYNM promoter methylation may become a useful predictive biomarker to stratify breast cancer patients' risk for tumor relapse. Desmuslin expression is required for the maintenance of vascular smooth muscle phenotype. Decreased desmuslin expression may affect differentiation of VSMCs and ultimately contribute to the development of varicose veins.
SYNM compares well with MYH11 as a SMC marker and its mRNA and protein levels are controlled by all MRTFs. To assess how SYNM compares with other SMC markers, we used RNA-Seq data from the GTExPortal.com (8). SYNM was correlated with all other transcripts in the nine tissues with highest SYNM levels (n = 11-332, see materials and methods).
Synemin (SYNM) is a type IV intermediate filament that has recently been shown to interact with the LIM domain protein zyxin, thereby possibly modulating cell adhesion and cell motility. Owing to ...
Function. Type-VI intermediate filament (IF) which plays an important cytoskeletal role within the muscle cell cytoskeleton. It forms heteromeric IFs with desmin and/or vimentin, and via its interaction with cytoskeletal proteins alpha-dystrobrevin, dystrophin, talin-1, utrophin and vinculin, is able to link these heteromeric IFs to adherens ...
Identification of Synemin as in Intermediate Filament Protein. Synemin was first identified as an IF-associated protein (IFAP). It was isolated from chicken smooth and skeletal muscle in association with desmin and vimentin at the Z-disks (Granger and Lazarides, 1980).However, cloning of the synemin gene (SYNM) revealed it to be a bona fide IF protein, as it contains the rod domain that allows ...
Because SYNM is a new candidate gene that displays numerous sequence polymorphisms, in this review, we summarize the genetic and clinical literature about SYNM mutations. Protein-changing variants (missense, frameshifts, nonsense) were further evaluated based on structural modifications and amino acid interactions. We present in silico modeling ...
SYNM was repressed by the ternary complex factor (TCF) FLI1 and was increased in mouse embryonic fibroblasts lacking three classical TCFs (ELK1, ELK3, and ELK4). Imaging showed colocalization of SYNM with the intermediate filament proteins desmin and vimentin, and MRTF-A/MKL1 increased SYNM-containing intermediate filaments in SMCs. ...
View mouse Synm Chr7:67379909-67409490 with: phenotypes, sequences, polymorphisms, proteins, references, function, expression
Western blot analysis detected a 160-kD protein in heart and skeletal muscle. Immunofluorescence microscopy localized DMN in a stripe-like pattern in longitudinal sections and in a mosaic pattern in cross-sections of skeletal muscle. Electron microscopic analysis showed that DMN colocalized with desmin ( 125660) at the Z lines.
Function. Type-VI intermediate filament (IF) which plays an important cytoskeletal role within the muscle cell cytoskeleton. It forms heteromeric IFs with desmin and/or vimentin, and via its interaction with cytoskeletal proteins alpha-dystrobrevin, dystrophin, talin-1, utrophin and vinculin, is able to link these heteromeric IFs to adherens ...
ICC were CD117 + /SYNM +, whereas mast cells were CD117 + /SYNM −. Because the percentage of CD117 + /SYNM + GIST was higher than the percentage of 117 + /CD34 + GIST, this study suggested that SYNM was a better marker than CD34 for GIST diagnosis. In addition, differential expression of SYNM and CD117 helped distinguish between ICC and mast ...
Go to Variation Viewer for SYNM variants; Summary. The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of ...
NARS2 (Asparaginyl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with NARS2 include Combined Oxidative Phosphorylation Deficiency 24 and Deafness, Autosomal Recessive 94.Among its related pathways are tRNA Aminoacylation and Metabolism of proteins.Gene Ontology (GO) annotations related to this gene include nucleic acid binding and aminoacyl-tRNA ligase activity.
In addition to typical smooth muscle cell (SMC) markers, these pathways also encompassed cytoskeleton-related genes previously not associated with atherosclerosis. SYNPO2, SYNM, LMOD1, PDLIM7, and PLN expression positively correlated to typical SMC markers in plaques (Pearson r>0.6, P<0.0001) and in rat intimal hyperplasia (r>0.8, P<0.0001).
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Recently, mutations in synemin (SYNM gene, OMIM *606087) have been linked to cardiomyopathy. This review will summarize clinical and molecular aspects of desmin-, lamin- and synemin-related striated muscle disorders with focus on LMNA and DES -associated clinical entities and will suggest pathogenetic hypotheses based on the interplay of desmin ...
Syntroleum Corporation (Syntroleum), along with its subsidiaries, is engaged in the commercialization of technologies to produce synthetic liquid hydrocarbons. The Syntroleum Technologies consist of air based syngas generation from natural gas, Fischer-Tropsch (FT) technology to convert syngas to FT wax, and hydroprocessing technology.
Orthologous to human SYNM (synemin). [provided by Alliance of Genome Resources, Apr 2022] Other designations. synemin. GeneRIFs: Gene References Into Functions. Synemin is a target of myocardin family coactivators. synemin plays an important regulatory role in the heart and that the consequences of its absence are profound.
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also known as desmuslin, is a protein that in humans is encoded by the SYNM gene. Synemin is an intermediate filament (IF) family member. IF proteinsSyntroleum Corporation Company type Public Traded as Nasdaq: SYNM Industry Engineering Founded 1984 (1984) Founder Kenneth Agee Defunct June 3, 2014 (2014-06-03)O43426 16150 SYNJ2 HGNC:11504 O15056 16151 SYNJ2BP HGNC:18955 P57105 16152 SYNM HGNC:24466 O15061 16153 SYNPO HGNC:30672 Q8N3V7 16154 SYNPO2 HGNC:17732 Q9UMS6multiple pilot demonstrations since 2009. The company used Syntroleum Inc (SYNM) technology to provide fifty gallons of gasoline for the Algaeus, a plugin-hybrid[citation needed] Another gene that has been associated with this condition is SYNM. This gene is located on the long arm of chromosome 15 (15q26.3).[citationSnurportin1 STRC: stereocilin SUHW4: encoding protein Zinc finger protein 280D SYNM: encoding protein Synemin TEX9: encoding protein Testis-expressed proteinbeen shown to interact with: ACTA1, CD61, ITGB1, LAYN, PXN, PIP5K1C, PTK2, SYNM, and VCL. Talin protein GRCh38: Ensembl release 89: ENSG00000137076 - Ensembl
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