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Synaptophysin
Synaptophysin, also known as the major synaptic vesicle protein p38, is a protein that in humans is encoded by the ''SYP'' gene. Genomics The gene is located on the short arm of X chromosome (Xp11.23-p11.22). It is 12,406 bases in length and lies on the minus strand. The encoded protein has 313 amino acids with a predicted molecular weight of 33.845 kDa. Molecular biology The protein is a synaptic vesicle glycoprotein with four transmembrane domains weighing 38kDa. It is present in neuroendocrine cells and in virtually all neurons in the brain and spinal cord that participate in synaptic transmission. It acts as a marker for neuroendocrine tumors, and its ubiquity at the synapse has led to the use of synaptophysin immunostaining for quantification of synapses. The exact function of the protein is unknown: it interacts with the essential synaptic vesicle protein synaptobrevin, but when the synaptophysin gene is experimentally inactivated in animals, they still develo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SIAH2
E3 ubiquitin-protein ligase SIAH2 is an enzyme that in humans is encoded by the ''SIAH2'' gene. Function This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in regulating cellular response to hypoxia. Interactions SIAH2 has been shown to interact with PEG10, Synaptophysin Synaptophysin, also known as the major synaptic vesicle protein p38, is a protein that in humans is encoded by the ''SYP'' gene. Genomics The gene is located on the short arm of X chromosome (Xp11.23-p11.22). It is 12,406 bases in length a ..., PEG3 and VAV1. References Further reading * * * * * * * * * * * * * * * * * {{refend ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
AP1G1
AP-1 complex subunit gamma-1 is a protein that in humans is encoded by the ''AP1G1'' gene. Function Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. Interactions AP1G1 has been shown to interact with: * AP1B1, * AP1GBP1, * AP1M1, * AP1S1, * NECAP2, * RABEP1 Rab GTPase-binding effector protein 1 is an enzyme that in humans is encoded by the ''R ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromogranin A
Chromogranin A or parathyroid secretory protein 1 (gene name CHGA) is a member of the granin family of neuroendocrine secretory proteins. As such, it is located in secretory vesicles of neurons and endocrine cells such as islet beta cell secretory granules in the pancreas. In humans, chromogranin A protein is encoded by the ''CHGA'' gene. Tissue distribution Examples of cells producing chromogranin A (ChgA) are chromaffin cells of the adrenal medulla, paraganglia, enterochromaffin-like cells and beta cells of the pancreas. It is present in islet beta cell secretory granules. chromogranin-A (CgA)+ Pulmonary neuroendocrine cells account for 0.41% of all epithelial cells in the conducting airway, but are absent from the alveoli. Function Chromogranin A is the precursor to several functional peptides including vasostatin-1, vasostatin-2, pancreastatin, catestatin and parastatin. These peptides negatively modulate the neuroendocrine function of the releasing cell (autocrine) or n ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Retinoblastoma
Retinoblastoma (Rb) is a rare form of cancer that rapidly develops from the immature cells of a retina, the light-detecting tissue of the eye. It is the most common primary malignant intraocular cancer in children, and it is almost exclusively found in young children. Though most children survive this cancer, they may lose their vision in the affected eye(s) or need to have the eye removed. Almost half of children with retinoblastoma have a hereditary genetic defect associated with retinoblastoma. In other cases, it is caused by a congenital mutation in the chromosome 13 gene 13q14 ( retinoblastoma protein). Signs and symptoms Retinoblastoma is universally known as the most intrusive intraocular cancer among children. The chance of survival and preservation of the eye depends fully on the severity. Retinoblastoma is extremely rare as there are only about 200 to 300 cases every year in the United States. Looking at retinoblastoma globally, only 1 in about 15,000 children have ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Schizophrenia Research
''Schizophrenia Research'' is a peer-reviewed medical journal covering research on the cause, clinical diagnostics, and treatment of schizophrenia. It is an official journal of the Schizophrenia International Research Society and was established in 1988. The editor-in-chief is Matcheri Keshavan and the former editors are Henry Nasrallah (University of Cincinnati) and Lynn DeLisi (Harvard Medical School). According to ''Schizophrenia Researchs original mission statement, the journal is aimed at According to the ''Journal Citation Reports'', the journal has a 2018 impact factor of 4.56 See also * List of psychiatry journals * ''Schizophrenia Bulletin ''Schizophrenia Bulletin'' is a peer-reviewed medical journal which covers research relating to the etiology and treatment of schizophrenia. The journal is published bimonthly by Oxford University Press in association with the Maryland Psychiatric ...'' References External links * {{Official website, https://www.journ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Human Genes
This article is an index of lists of human genes. By chromosome Below is a list of articles on human chromosomes, each of which contains an incomplete list of genes located on that chromosome. * Chromosome 1 (human) * Chromosome 2 (human) * Chromosome 3 (human) * Chromosome 4 (human) * Chromosome 5 (human) * Chromosome 6 (human) * Chromosome 7 (human) * Chromosome 8 (human) * Chromosome 9 (human) * Chromosome 10 (human) * Chromosome 11 (human) * Chromosome 12 (human) * Chromosome 13 (human) * Chromosome 14 (human) * Chromosome 15 (human) * Chromosome 16 (human) * Chromosome 17 (human) * Chromosome 18 (human) * Chromosome 19 (human) * Chromosome 20 (human) * Chromosome 21 (human) * Chromosome 22 (human) * Chromosome X (human) * Chromosome Y (human) Protein-coding genes The lists below constitute a complete list of all known human protein-coding genes. Transcription factors This is a list of 1639 genes which encode proteins that are known or expected to function as huma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medullary Thyroid Carcinoma
Medullary thyroid cancer is a form of thyroid carcinoma which originates from the parafollicular cells (C cells), which produce the hormone calcitonin.Hu MI, Vassilopoulou-Sellin R, Lustig R, Lamont JP"Thyroid and Parathyroid Cancers"in Pazdur R, Wagman LD, Camphausen KA, Hoskins WJ (EdsCancer Management: A Multidisciplinary Approach 11 ed. 2008. Medullary tumors are the third most common of all thyroid cancers and together make up about 3% of all thyroid cancer cases. MTC was first characterized in 1959. Approximately 25% of medullary thyroid cancer cases are genetic in nature, caused by a mutation in the RET proto-oncogene. When MTC occurs by itself it is termed sporadic medullary thyroid cancer. Medullary thyroid cancer is seen in people with multiple endocrine neoplasia type 2A and 2B. When medullary thyroid cancer due to a hereditary genetic disorder occurs without other endocrine tumours it is termed familial medullary thyroid cancer. Signs and symptoms The major clinica ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medulloblastoma
Medulloblastoma is a common type of primary brain cancer in children. It originates in the part of the brain that is towards the back and the bottom, on the floor of the skull, in the cerebellum, or posterior fossa. The brain is divided into two main parts, the larger cerebrum on top and the smaller cerebellum below towards the back. They are separated by a membrane called the tentorium. Tumors that originate in the cerebellum or the surrounding region below the tentorium are, therefore, called infratentorial. Historically medulloblastomas have been classified as a primitive neuroectodermal tumor (PNET), but it is now known that medulloblastoma is distinct from supratentorial PNETs and they are no longer considered similar entities. Medulloblastomas are invasive, rapidly growing tumors that, unlike most brain tumors, spread through the cerebrospinal fluid and frequently metastasize to different locations along the surface of the brain and spinal cord. Metastasis all the way ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Small-cell Carcinoma
Small-cell carcinoma is a type of highly malignant cancer that most commonly arises within the lung, although it can occasionally arise in other body sites, such as the cervix, prostate, and gastrointestinal tract. Compared to non-small cell carcinoma, small cell carcinoma has a shorter doubling time, higher growth fraction, and earlier development of metastases. Extensive stage small cell lung cancer is classified as a rare disorder. Ten-year relative survival rate is 3.5%; however, women have a higher survival rate, 4.3%, and men lower, 2.8%. Survival can be higher or lower based on a combination of factors including stage, age, gender and race. Types of SCLC Small-cell lung carcinoma has long been divided into two clinicopathological stages, termed ''limited stage'' (LS) and ''extensive stage'' (ES). The stage is generally determined by the presence or absence of metastases, whether or not the tumor appears limited to the thorax, and whether or not the entire tumor burden wit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Carcinoid
A carcinoid (also carcinoid tumor) is a slow-growing type of neuroendocrine tumor originating in the cells of the neuroendocrine system. In some cases, metastasis may occur. Carcinoid tumors of the midgut (jejunum, ileum, appendix, and cecum) are associated with carcinoid syndrome. Carcinoid tumors are the most common malignant tumor of the appendix, but they are most commonly associated with the small intestine, and they can also be found in the rectum and stomach. They are known to grow in the liver, but this finding is usually a manifestation of metastatic disease from a primary carcinoid occurring elsewhere in the body. They have a very slow growth rate compared to most malignant tumors. The median age at diagnosis for all patients with neuroendocrine tumors is 63 years. Signs and symptoms While most carcinoids are asymptomatic through the natural life and are discovered only upon surgery for unrelated reasons (so-called ''coincidental carcinoids''), all carcinoids are co ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
