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PCM1
Pericentriolar material 1, also known as PCM1, is a protein which in humans is encoded by the ''PCM1'' gene. Function The PCM1 protein was originally identified by virtue of its distinct cell cycle-dependent association with the centrosome complex and microtubules. The protein appears to associate with the centrosome complex during the cell cycle. Dissociation occurs during mitosis when PCM1 is dispersed throughout the cell. Immunolabeling studies performed found that PCM1 was present in centriolar satellites and in electron dense granules between 70 and 100 nm in diameter. These were originally thought to be scattered only around the centrosomes, but further studies proved that PCM1 was also found throughout the cytoplasm. PCM1 was shown to be essential for cell division because PCM1 antibodies cause cell-cycle arrest when microinjected into fertilized murine eggs. Targeting of centrin, pericentrin and ninein was also dramatically reduced after PCM1 depletion using siRNA, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DISC1
Disrupted in schizophrenia 1 is a protein that in humans is encoded by the ''DISC1'' gene. In coordination with a wide array of interacting partners, DISC1 has been shown to participate in the regulation of cell proliferation, differentiation, migration, neuronal axon and dendrite outgrowth, mitochondrial transport, fission and/or fusion, and cell-to-cell adhesion. Several studies have shown that unregulated expression or altered protein structure of DISC1 may predispose individuals to the development of schizophrenia, clinical depression, bipolar disorder, and other psychiatric conditions. The cellular functions that are disrupted by permutations in DISC1, which lead to the development of these disorders, have yet to be clearly defined and are the subject of current ongoing research. Although, recent genetic studies of large schizophrenia cohorts have failed to implicate DISC1 as a risk gene at the gene level, the DISC1 interactome gene set was associated with schizophrenia, s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PCNT
Pericentrin (kendrin), also known as PCNT and pericentrin-B (PCNTB), is a protein which in humans is encoded by the ''PCNT'' gene on chromosome 21. This protein localizes to the centrosome and recruits proteins to the pericentriolar matrix (PCM) to ensure proper centrosome and mitotic spindle formation, and thus, uninterrupted cell cycle progression. This gene is implicated in many diseases and disorders, including congenital disorders such as microcephalic osteodysplastic primordial dwarfism type II (MOPDII) and Seckel syndrome. Structure PCNT is a 360 kDa protein which contains a series of coiled coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The PACT domain is responsible for targeting the protein to the centrosomes and attaching it to the centriole walls during interphase. In addition, PCNT possesses five nuclear export sequences which all contribute to its nuclear export into the cytoplasm, as well as one nuclear locali ... [...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 residue ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Xanthine Dehydrogenase
Xanthine dehydrogenase, also known as XDH, is a protein that, in humans, is encoded by the ''XDH'' gene. Function Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The enzyme is a homodimer. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Xanthine dehydrogenase catalysis, catalyzes the following chemical reaction: xanthine + NAD+ + H2O \rightleftharpoons urate + NADH + H+ The three substrate (biochemistry), substrates of this enzyme are xanthine, nicotinamide adenine dinucleotide, NAD+, and water, H2O, whereas its three product (chemistry), products are urate, nicotinamide adenine dinucleotide, NADH, and hydrogen ion, H+. This enzyme participates in purine metabolism. Nomenclature This enzyme belongs to the family of oxidoreductases, to be specific, those acting on CH or CH2 groups with NAD+ or NAD ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
BBS4
Bardet–Biedl syndrome 4 is a protein that in humans is encoded by the ''BBS4'' gene. This gene encodes a protein which contains tetratricopeptide repeats (TPR), similar to O-linked N-acetylglucosamine transferase. Mutations in this gene have been observed in patients with Bardet–Biedl syndrome type 4. The encoded protein may play a role in pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. Interactions BBS4 has been shown to interact with DCTN1 Dynactin subunit 1 is a protein that in humans is encoded by the ''DCTN1'' gene. Function This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 23 subunits (11 individual proteins ranging in size from 22 to .... References Further reading * * * * * * * * External links GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome * {{gene-15-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Counselling
Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease; this field is considered necessary for the implementation of genomic medicine. The process integrates: * Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence * Education about inheritance, testing, management, prevention, resources * Counseling to promote informed choices, adaptation to the risk or condition and support in reaching out to relatives that are also at risk History The practice of advising people about inherited traits began around the turn of the 20th century, shortly after William Bateson suggested that the new medical and biological study of heredity be called "genetics". Heredity became intertwined with social reforms when the field of modern eugenics took form. Althoug ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Schizophrenia
Schizophrenia is a mental disorder characterized by continuous or relapsing episodes of psychosis. Major symptoms include hallucinations (typically hearing voices), delusions, and disorganized thinking. Other symptoms include social withdrawal, decreased emotional expression, and apathy. Symptoms typically develop gradually, begin during young adulthood, and in many cases never become resolved. There is no objective diagnostic test; diagnosis is based on observed behavior, a history that includes the person's reported experiences, and reports of others familiar with the person. To be diagnosed with schizophrenia, symptoms and functional impairment need to be present for six months (DSM-5) or one month (ICD-11). Many people with schizophrenia have other mental disorders, especially substance use disorders, depressive disorders, anxiety disorders, and obsessive–compulsive disorder. About 0.3% to 0.7% of people are diagnosed with schizophrenia during their lifetime. In 2 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hippocampus
The hippocampus (via Latin from Greek , 'seahorse') is a major component of the brain of humans and other vertebrates. Humans and other mammals have two hippocampi, one in each side of the brain. The hippocampus is part of the limbic system, and plays important roles in the consolidation of information from short-term memory to long-term memory, and in spatial memory that enables navigation. The hippocampus is located in the allocortex, with neural projections into the neocortex in humans, as well as primates. The hippocampus, as the medial pallium, is a structure found in all vertebrates. In humans, it contains two main interlocking parts: the hippocampus proper (also called ''Ammon's horn''), and the dentate gyrus. In Alzheimer's disease (and other forms of dementia), the hippocampus is one of the first regions of the brain to suffer damage; short-term memory loss and disorientation are included among the early symptoms. Damage to the hippocampus can also result from ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mouse Brain
The mouse brain refers to the brain of Mus musculus. Various brain atlases exist. For reasons of reproducibility, genetically characterized, stable strains like C57BL/6 were chosen to produce high-resolution images and databases. Well known online resources include: *Allen Brain Atlas * Mouse Brain LibraryHigh resolution mouse brain atlas*BrainMaps High-Resolution Brain Maps and Brain Atlases of ''Mus musculus'' Despite superficial differences, especially in size and weight, the mouse brain and its function can serve as a powerful animal model for study of human brain diseases or mental disorders (see e.g. Reeler, Chakragati mouse). This is because the genes responsible for building and operating both mouse and human brain are 90% identical. Transgenic mouse lines also allow neuroscientists to specifically target the labeling of certain cell types to probe the neural basis of fundamental processes. Anatomy The cerebral cortex of a mouse has around 8–14 million neurons while in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ABCA2
ATP-binding cassette sub-family A member 2 is a protein that in humans is encoded by the ''ABCA2'' gene. The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. See also * ATP-binding cassette transporter The ATP synthase, ATP-binding cassette transporters (ABC transporters) are a transport system superfamily that is one of the largest and possibly one of the o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Erythropoietin Receptor
The erythropoietin receptor (EpoR) is a protein that in humans is encoded by the ''EPOR'' gene. EpoR is a 52kDa peptide with a single carbohydrate chain resulting in an approximately 56-57 kDa protein found on the surface of EPO responding cells. It is a member of the cytokine receptor family. EpoR pre-exists as dimers. These dimers were originally thought to be formed by extracellular domain interactions, however, it is now assumed that it is formed by interactions of the transmembrane domain and that the original structure of the extracellular interaction site was due to crystallisation conditions and does not depict the native conformation. Binding of a 30 kDa ligand erythropoietin (Epo), changes the receptor's conformational change, resulting in the autophosphorylation of Jak2 kinases that are pre-associated with the receptor (i.e., EpoR does not possess intrinsic kinase activity and depends on Jak2 activity). At present, the most well-established function of EpoR is to promote ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aldehyde Oxidase
Aldehyde oxidase (AO) is a metabolizing enzyme, located in the cytosolic compartment of tissues in many organisms. AO catalyzes the oxidation of aldehydes into carboxylic acid, and in addition, catalyzes the hydroxylation of some heterocycles. It can also catalyze the oxidation of both cytochrome P450 (CYP450) and monoamine oxidase (MAO) intermediate products. AO plays an important role in the metabolism of several drugs. Reaction AO catalyzes the conversion of an aldehyde in the presence of oxygen and water to an acid and hydrogen peroxide. * an aldehyde + H2O + O2 ⇌ a carboxylate + H2O2 + H+ Though the enzyme uses molecular oxygen as an electron acceptor, the oxygen atom that is incorporated into the carboxylate product is from water; however, the exact mechanism of reduction is still not known for AO. The AO also catalyzes the oxidation of heterocycles, which involves a nucleophilic attack located at the carbon atom beside the heteroatom. This means that susceptibility ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
