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PACSIN3
Protein kinase C and casein kinase substrate in neurons protein 3 is an enzyme that in humans is encoded by the ''PACSIN3'' gene. Human disease Biallelic truncating variants in the PACSIN3 gene has been associated with hyperCKemia and childhood onset myopathy Interactions PACSIN3 has been shown to interact with PACSIN1 and PACSIN2 Protein kinase C and casein kinase substrate in neurons protein 2 (Pacsin 2) is a protein that in humans is encoded by the ''PACSIN2'' gene. Pacsin 2 is involved in the formation of caveolae In biology, caveolae ( Latin for "little caves"; singula .... References Further reading * * * * * * * * * * * Felix Distelmaier, Abdullah Sezer, Christina Helm, Stephan Waldmüller, Annette Seibt, Andrea Gangfuß, Heike Kölbel, Ulrike Schara-Schmidt, Deniz Yuksel, Beril Talim, Ertan Mayatepek, Stefan Nikolin, Joachim Weis, Andreas Roos, Tobias B Haack, Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia, Brain, 2 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. Almost all metabolic processes in the cell need enzyme catalysis in order to occur at rates fast enough to sustain life. Metabolic pathways depend upon enzymes to catalyze individual steps. The study of enzymes is called ''enzymology'' and the field of pseudoenzyme analysis recognizes that during evolution, some enzymes have lost the ability to carry out biological catalysis, which is often reflected in their amino acid sequences and unusual 'pseudocatalytic' properties. Enzymes are known to catalyze more than 5,000 biochemical reaction types. Other biocatalysts are catalytic RNA molecules, called ribozymes. Enzymes' specificity comes from their unique three-dimensional structures. Like all catalysts, enzymes increase the reaction ra ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PACSIN1
Protein kinase C and casein kinase substrate in neurons protein 1 is an enzyme that in humans is encoded by the ''PACSIN1'' gene. This is nonsense. Please see the scientific literature on Syndapin I in the PubMED database of scientific literature. Interactions PACSIN1 has been shown to interact with GTPases of the Dynamin family (Dynamin 1, 2 and 3). Based on this interaction, its localization and functional role the protein was named syndapin I (synaptic dynamin-associated protein I) - a scientific more useful and more widely used name than PACSIN1. * DNM1 Dynamin-1 is a protein that in humans is encoded by the ''DNM1'' gene. Function This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and s ... >Qualmann et al., 1999 Subsequently, a variety of further interactions have been published (see PubMED database and search for syndapin I). References External links ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
