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Apolipoprotein L
Apolipoprotein L (Apo L) is found in high-density lipoprotein complexes that plays a central role in cholesterol transport. The cholesterol content of membranes is important in cellular processes such as modulating gene transcription and signal transduction both in the adult brain and during neurodevelopment. There are six apo L genes located in close proximity to each other on chromosome 22q12 in humans. 22q12 is a confirmed high-susceptibility locus for schizophrenia and close to the region associated with velocardiofacial syndrome that includes symptoms of schizophrenia. Human proteins containing this domain APOL1; APOL2; APOL3; APOL4; APOL5; APOL6; APOLD1; References

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High-density Lipoprotein
High-density lipoprotein (HDL) is one of the five major groups of lipoproteins. Lipoproteins are complex particles composed of multiple proteins which transport all fat molecules (lipids) around the body within the water outside cells. They are typically composed of 80–100 proteins per particle (organized by one, two or three ApoA. HDL particles enlarge while circulating in the blood, aggregating more fat molecules) and transporting up to hundreds of fat molecules per particle. Overview Lipoproteins are divided into five subgroups, by density/size (an inverse relationship), which also correlates with function and incidence of cardiovascular events. Unlike the larger lipoprotein particles, which deliver fat molecules to cells, HDL particles remove fat molecules from cells. The lipids carried include cholesterol, phospholipids, and triglycerides, amounts of each are variable. Increasing concentrations of HDL particles are associated with decreasing accumulation of atherosclerosis ...
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Gene Transcription
Transcription is the process of copying a segment of DNA into RNA. The segments of DNA transcribed into RNA molecules that can encode proteins are said to produce messenger RNA (mRNA). Other segments of DNA are copied into RNA molecules called non-coding RNAs (ncRNAs). mRNA comprises only 1–3% of total RNA samples. Less than 2% of the human genome can be transcribed into mRNA ( Human genome#Coding vs. noncoding DNA), while at least 80% of mammalian genomic DNA can be actively transcribed (in one or more types of cells), with the majority of this 80% considered to be ncRNA. Both DNA and RNA are nucleic acids, which use base pairs of nucleotides as a complementary language. During transcription, a DNA sequence is read by an RNA polymerase, which produces a complementary, antiparallel RNA strand called a primary transcript. Transcription proceeds in the following general steps: # RNA polymerase, together with one or more general transcription factors, binds to promoter ...
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Signal Transduction
Signal transduction is the process by which a chemical or physical signal is transmitted through a cell as a series of molecular events, most commonly protein phosphorylation catalyzed by protein kinases, which ultimately results in a cellular response. Proteins responsible for detecting stimuli are generally termed receptors, although in some cases the term sensor is used. The changes elicited by ligand binding (or signal sensing) in a receptor give rise to a biochemical cascade, which is a chain of biochemical events known as a signaling pathway. When signaling pathways interact with one another they form networks, which allow cellular responses to be coordinated, often by combinatorial signaling events. At the molecular level, such responses include changes in the transcription or translation of genes, and post-translational and conformational changes in proteins, as well as changes in their location. These molecular events are the basic mechanisms controlling cell growth, ...
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Neurodevelopment
The development of the nervous system in humans, or neural development or neurodevelopment involves the studies of embryology, developmental biology, and neuroscience to describe the cellular and molecular mechanisms by which the complex nervous system forms in humans, develops during prenatal development, and continues to develop postnatally. Some landmarks of neural development in the embryo include the formation and differentiation of neurons from stem cell precursors (neurogenesis); the migration of immature neurons from their birthplaces in the embryo to their final positions; the outgrowth of axons from neurons and guidance of the motile growth cone through the embryo towards postsynaptic partners, the generation of synapses between these axons and their postsynaptic partners, the synaptic pruning that occurs in adolescence, and finally the lifelong changes in synapses which are thought to underlie learning and memory. Typically, these neurodevelopmental processes can b ...
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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 ...
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Velocardiofacial Syndrome
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental delay, learning problems and cleft palate. Associated conditions include kidney problems, schizophrenia, hearing loss and autoimmune disorders such as rheumatoid arthritis or Graves' disease. DiGeorge syndrome is typically due to the deletion of 30 to 40 genes in the middle of chromosome 22 at a location known as ''22q11.2''. About 90% of cases occur due to a new mutation during early development, while 10% are inherited from a person's parents. It is autosomal dominant, meaning that only one affected chromosome is needed for the condition to occur. Diagnosis is suspected based on the symptoms and confirmed by genetic testing. Although there is no cure, treatment can improve symptoms. This often includes a multi ...
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APOL1
Apolipoprotein L1 is a protein that in humans is encoded by the ''APOL1'' gene. Two transcript variants encoding two different isoforms have been found for this gene. Species distribution This gene is found only in humans, African green monkeys, and gorillas. Structure The gene that encodes the APOL1 protein is 14,522 base pairs long and found on the human chromosome 22, on the long arm at position 13.1 from base pair 36,253,070 to base pair 36,267,530. The protein is a 398 amino acid protein. It consists of 5 functional domains: * S domain-secretory signal * MAD (membrane-addressing domain)-ph sensor and regulator of cell death * BH3 domain - associated with programmed cell death * PFD (pore forming domain) * SRA (serum resistance-associated binding domain)- confers resistance to Trypanosoma brucei Mutations Two coding variants, G1 and G2, have been recently identified with relevance to human phenotypes. The G1 is a pair of two non-synonymous single nucleotide polymorph ...
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APOL2
Apolipoprotein L2 is a protein that in humans is encoded by the ''APOL2'' gene. This gene is a member of the apolipoprotein L gene family and protein in this family are lipid-binding proteins. This gene encodes a 37.1 kDa protein and The protein sequence contains 337bp. Localization of this protein is mainly found in the cytosol, nucleoplasm and additionally, it is also seen in the Nuclear bodies. The involvement of this gene may affect in the movement of lipids and binding of lipids to organelles. Two transcript variants encoding the same protein have been found for this gene. Amino acid sequence Total amino acids: 337 Interactions APOL2 has been shown to interact with: * IFN-γ, * CD81, * TNF-α Tumor necrosis factor (TNF, cachexin, or cachectin; formerly known as tumor necrosis factor alpha or TNF-α) is an adipokine and a cytokine. TNF is a member of the TNF superfamily, which consists of various transmembrane proteins with a homolog ..., * Bcl-2, ...
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APOL3
Apolipoprotein L3 is a protein that in humans is encoded by the ''APOL3'' gene. Expressed in the gut, it has antibiotic properties. This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelle In cell biology, an organelle is a specialized subunit, usually within a cell, that has a specific function. The name ''organelle'' comes from the idea that these structures are parts of cells, as organs are to the body, hence ''organelle,'' the ...s. In addition, expression of this gene is upregulated by tumor necrosis factor-alpha in endothelial cells lining the normal and atherosclerotic iliac artery and aorta. Six transcript variants encoding three different isoforms have been found for this gene. References External links * Further reading

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APOL6
Apolipoprotein L6 is a protein that in humans is encoded by the ''APOL6'' gene. This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelle In cell biology, an organelle is a specialized subunit, usually within a cell, that has a specific function. The name ''organelle'' comes from the idea that these structures are parts of cells, as organs are to the body, hence ''organelle,'' the ...s. References External links * Further reading

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