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CC2D2A
Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the ''CC2D2A'' gene. Function This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Clinical significance Mutations in the CC2D2A gene are associated with Meckel syndrome as well as Joubert syndrome Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. Joubert syndrome is one of the many genetic syndromes associated with syndromic retinitis pi .... References External links * Further reading * * * * * * * * * {{gene-4-stub ... [...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] |
Cilia
The cilium, plural cilia (), is a membrane-bound organelle found on most types of eukaryotic cell, and certain microorganisms known as ciliates. Cilia are absent in bacteria and archaea. The cilium has the shape of a slender threadlike projection that extends from the surface of the much larger cell body. Eukaryotic flagella found on sperm cells and many protozoans have a similar structure to motile cilia that enables swimming through liquids; they are longer than cilia and have a different undulating motion. There are two major classes of cilia: ''motile'' and ''non-motile'' cilia, each with a subtype, giving four types in all. A cell will typically have one primary cilium or many motile cilia. The structure of the cilium core called the axoneme determines the cilium class. Most motile cilia have a central pair of single microtubules surrounded by nine pairs of double microtubules called a 9+2 axoneme. Most non-motile cilia have a 9+0 axoneme that lacks the central pair of mi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Meckel Syndrome
Meckel may refer to: People German anatomist/physician family Meckel * Johann Friedrich Meckel, the Younger (1781–1833), German anatomist * Johann Friedrich Meckel, the Elder (1724–1774) German anatomist, grandfather of the Younger * Philipp Friedrich Theodor Meckel (1755–1803) German anatomist, father of Johann Friedrich the Younger * August Albrecht Meckel (1789–1829) German physician. brother of Johann Friedrich the Younger * Johann Heinrich Meckel (1821–1856) German anatomist, son of Johann Friedrich the Younger Others * Christoph Meckel (1935–2020) German author and graphic artist * Jakob Meckel (1842–1905) Prussian general * Markus Meckel (born 1952) German theologian and politician * Miriam Meckel Miriam Meckel (born 18 July 1967) is a German journalist and professor for Corporate Communication, editor and publisher of the German magazine ''Wirtschaftswoche'' and Director of the Institute for Media and Communication Management at the Univ ... (bo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
