C12orf40
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C12orf40
C12orf40, also known as Chromosome 12 Open Reading Frame 40, HEL-206, and Epididymis Luminal Protein 206 is a protein that in humans is encoded by the ''C12orf40'' gene. Gene Human gene In humans, the gene for ''C12orf40'' is located on chromosome 12. There are 13 exons in the canonical isoform that is transcribed into an mRNA of 2797 base pairs. Three other isoforms have been isolated. Evolution Homologs exist as distant as the green sea turtle and chickens at approximately 60% sequence identity, suggesting that the gene may have arisen in the amniotes after their divergence from other tetrapods; the first 4 exons are conserved with 36% identity as distantly as the anemone. Protein Properties The human ''C12orf40'' protein is 652 amino acids in length. Its molecular weight is predicted to be 74.52 kDa, and its isoelectric point 7.822. Amino acids 229-652 contain a domain of unknown function (''DUF4552'') which is conserved in vertebrates. ''C12orf40'' is predicted to be a s ...
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DYNLL2
Dynein light chain 2, cytoplasmic is a protein that in humans is encoded by the ''DYNLL2'' gene. Interactions DYNLL2 has been shown to interact with DLG4, C12orf40, DLGAP1, MYO5A Unconventional myosin-Va is a motor protein in charge of the intracellular transport of vesicles, organelles and protein complexes along the actin filaments. In humans it is coded for by the ''MYO5A'' gene. Structure In the presence of cargo ada ... and BMF. References Further reading * * * * * * * * External links

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Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid residue ...
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Vertebrates
Vertebrates () comprise all animal taxa within the subphylum Vertebrata () ( chordates with backbones), including all mammals, birds, reptiles, amphibians, and fish. Vertebrates represent the overwhelming majority of the phylum Chordata, with currently about 69,963 species described. Vertebrates comprise such groups as the following: * jawless fish, which include hagfish and lampreys * jawed vertebrates, which include: ** cartilaginous fish (sharks, rays, and ratfish) ** bony vertebrates, which include: *** ray-fins (the majority of living bony fish) *** lobe-fins, which include: **** coelacanths and lungfish **** tetrapods (limbed vertebrates) Extant vertebrates range in size from the frog species ''Paedophryne amauensis'', at as little as , to the blue whale, at up to . Vertebrates make up less than five percent of all described animal species; the rest are invertebrates, which lack vertebral columns. The vertebrates traditionally include the hagfish, which do no ...
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Arthrogryposis
Arthrogryposis (AMC) describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning "curving of joints" (', "joint"; ', late Latin form of late Greek ', "hooking"). Children born with one or more joint contractures have abnormal fibrosis of the muscle tissue causing muscle shortening, and therefore are unable to perform active extension and flexion in the affected joint or joints. AMC has been divided into three groups: amyoplasia, distal arthrogryposis, and syndromic. Amyoplasia is characterized by severe joint contractures and muscle weakness. Distal arthrogryposis mainly involves the hands and feet. Types of arthrogryposis with a primary neurological or muscle disease belong to the syndromic group. Signs and symptoms Often, every joint in a patient with arthrogryposis is affected; in 84% all limbs are involved, in 11% only the legs, and in 4% only the arms are involved. Every joint in the body, when affected, displays ...
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Tacrolimus
Tacrolimus, sold under the brand name Prograf among others, is an immunosuppressive drug. After allogeneic organ transplant, the risk of organ rejection is moderate. To lower the risk of organ rejection, tacrolimus is given. The drug can also be sold as a topical medication in the treatment of T-cell-mediated diseases such as eczema and psoriasis. For example, it is prescribed for severe refractory uveitis after a bone marrow transplant, exacerbations of minimal change disease, Kimura's disease, and vitiligo. It can be used to treat dry eye syndrome in cats and dogs. Tacrolimus inhibits calcineurin, which is involved in the production of interleukin-2, a molecule that promotes the development and proliferation of T cells, as part of the body's learned (or adaptive) immune response. Chemically, it is a macrolide lactone that was first discovered in 1987, from the fermentation broth of a Japanese soil sample that contained the bacterium ''Streptomyces tsukubensis''. It is on ...
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Fibroblasts
A fibroblast is a type of biological cell that synthesizes the extracellular matrix and collagen, produces the structural framework ( stroma) for animal tissues, and plays a critical role in wound healing. Fibroblasts are the most common cells of connective tissue in animals. Structure Fibroblasts have a branched cytoplasm surrounding an elliptical, speckled nucleus having two or more nucleoli. Active fibroblasts can be recognized by their abundant rough endoplasmic reticulum. Inactive fibroblasts (called fibrocytes) are smaller, spindle-shaped, and have a reduced amount of rough endoplasmic reticulum. Although disjointed and scattered when they have to cover a large space, fibroblasts, when crowded, often locally align in parallel clusters. Unlike the epithelial cells lining the body structures, fibroblasts do not form flat monolayers and are not restricted by a polarizing attachment to a basal lamina on one side, although they may contribute to basal lamina components in s ...
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Cystic Fibrosis Transmembrane Conductance Regulator
Cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein and anion channel in vertebrates that is encoded by the ''CFTR'' gene. Geneticist Lap-Chee Tsui and his team identified the CFTR gene in 1989 as the gene linked with CF (CYSTIC FIBROSIS). The CFTR gene codes for an ABC transporter-class ion channel protein that conducts chloride and bicarbonate ions across epithelial cell membranes. Mutations of the CFTR gene affecting anion channel function lead to dysregulation of epithelial lining fluid (mucus) transport in the lung, pancreas and other organs, resulting in cystic fibrosis. Complications include thickened mucus in the lungs with frequent respiratory infections, and pancreatic insufficiency giving rise to malnutrition and diabetes. These conditions lead to chronic disability and reduced life expectancy. In male patients, the progressive obstruction and destruction of the developing vas deferens (spermatic cord) and epididymis appear to result fr ...
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Three Prime Untranslated Region
In molecular genetics, the three prime untranslated region (3′-UTR) is the section of messenger RNA (mRNA) that immediately follows the translation termination codon. The 3′-UTR often contains regulatory regions that post-transcriptionally influence gene expression. During gene expression, an mRNA molecule is transcribed from the DNA sequence and is later translated into a protein. Several regions of the mRNA molecule are not translated into a protein including the 5' cap, 5' untranslated region, 3′ untranslated region and poly(A) tail. Regulatory regions within the 3′-untranslated region can influence polyadenylation, translation efficiency, localization, and stability of the mRNA. The 3′-UTR contains both binding sites for regulatory proteins as well as microRNAs (miRNAs). By binding to specific sites within the 3′-UTR, miRNAs can decrease gene expression of various mRNAs by either inhibiting translation or directly causing degradation of the transcript. The 3â ...
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Testis
A testicle or testis (plural testes) is the male reproductive gland or gonad in all bilaterians, including humans. It is homologous to the female ovary. The functions of the testes are to produce both sperm and androgens, primarily testosterone. Testosterone release is controlled by the anterior pituitary luteinizing hormone, whereas sperm production is controlled both by the anterior pituitary follicle-stimulating hormone and gonadal testosterone. Structure Appearance Males have two testicles of similar size contained within the scrotum, which is an extension of the abdominal wall. Scrotal asymmetry, in which one testicle extends farther down into the scrotum than the other, is common. This is because of the differences in the vasculature's anatomy. For 85% of men, the right testis hangs lower than the left one. Measurement and volume The volume of the testicle can be estimated by palpating it and comparing it to ellipsoids of known sizes. Another method is to use caliper ...
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Anemone
''Anemone'' () is a genus of flowering plants in the buttercup family Ranunculaceae. Plants of the genus are commonly called windflowers. They are native to the temperate and subtropical regions of all continents except Australia, New Zealand and Antarctica. The genus is closely related to several other genera including ''Anemonoides'', ''Anemonastrum'', ''Hepatica'', and ''Pulsatilla''. Some botanists include these genera within ''Anemone''. Description ''Anemone'' are perennials that have basal leaves with long leaf-stems that can be upright or prostrate. Leaves are simple or compound with lobed, parted, or undivided leaf blades. The leaf margins are toothed or entire. Flowers with 4–27 sepals are produced singly, in cymes of 2–9 flowers, or in umbels, above a cluster of leaf- or sepal-like bracts. Sepals may be any color. The pistils have one ovule. The flowers have nectaries, but petals are missing in the majority of species. The fruits are ovoid to obovoid shaped ...
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Humans
Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, culture, and language. Humans are highly social and tend to live in complex social structures composed of many cooperating and competing groups, from families and kinship networks to political states. Social interactions between humans have established a wide variety of values, social norms, and rituals, which bolster human society. Its intelligence and its desire to understand and influence the environment and to explain and manipulate phenomena have motivated humanity's development of science, philosophy, mythology, religion, and other fields of study. Although some scientists equate the term ''humans'' with all members of the genus ''Homo'', in common usage, it generally refers to ''Homo sapiens'', the only extant member. Anatomically ...
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Tetrapods
Tetrapods (; ) are four-limbed vertebrate animals constituting the superclass Tetrapoda (). It includes extant and extinct amphibians, sauropsids (reptiles, including dinosaurs and therefore birds) and synapsids (pelycosaurs, extinct therapsids and all extant mammals). Tetrapods evolved from a clade of primitive semiaquatic animals known as the Tetrapodomorpha which, in turn, evolved from ancient lobe-finned fish (sarcopterygians) around 390 million years ago in the Middle Devonian period; their forms were transitional between lobe-finned fishes and true four-limbed tetrapods. Limbed vertebrates (tetrapods in the broad sense of the word) are first known from Middle Devonian trackways, and body fossils became common near the end of the Late Devonian but these were all aquatic. The first crown-tetrapods (last common ancestors of extant tetrapods capable of terrestrial locomotion) appeared by the very early Carboniferous, 350 million years ago. The specific aquatic ancestors of t ...
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