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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. The variant rs2413739 in PACSIN2 has been associated with the activity of the enzyme thiopurine-methyltransferase during remission maintenance therapy of children with acute lymphoblastic leukemia and with the incidence of severe gastrointestinal adverse events during remission consolidation therapy of children with acute lymphoblastic leukemia, based mostly on the antimetabolites mercaptopurine and methotrexate. Interactions PACSIN2 has been shown to interact with: * Fas ligand, * PACSIN1, and * 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 .... References Further reading < ...
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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 ...
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Caveolae
In biology, caveolae (Latin for "little caves"; singular, caveola), which are a special type of lipid raft, are small (50–100 nanometer) invaginations of the plasma membrane in the cells of many vertebrates. They are the most abundant surface feature of many vertebrate cell types, especially endothelial cells, adipocytes and embryonic notochord cells. They were originally discovered by E. Yamada in 1955. These flask-shaped structures are rich in proteins as well as lipids such as cholesterol and sphingolipids and have several functions in signal transduction. They are also believed to play a role in mechanoprotection, mechanosensation, endocytosis, oncogenesis, and the uptake of pathogenic bacteria and certain viruses. Caveolins Formation and maintenance of caveolae was initially thought to be primarily due to caveolin, a 21 kD protein. There are three homologous genes of caveolin expressed in mammalian cells: Cav1, Cav2 and Cav3. These proteins have a common topology: ...
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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 ...
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