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ACSL4
Long-chain-fatty-acid—CoA ligase 4 is an enzyme that in humans is encoded by the ''ACSL4'' gene. The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme preferentially utilizes arachidonate as substrate. The absence of this enzyme may contribute to the intellectual disability or Alport syndrome. Alternative splicing of this gene generates 2 transcript variants. Structure The gene contains 18 exons. ACSL4 encodes a 74.4 kDa protein, FACL4, which is composed of 670 amino acids; 17 peptides have been observed through mass spectrometry data. Function Fatty acid-CoA ligase 4 (FACL4), the protein encoded by the ACSL4 gene, is an acyl-CoA synthetase, which i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Enzyme
An enzyme () is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different molecules known as product (chemistry), products. Almost all metabolism, metabolic processes in the cell (biology), cell need enzyme catalysis in order to occur at rates fast enough to sustain life. Metabolic pathways depend upon enzymes to catalyze individual steps. The study of enzymes is called ''enzymology'' and the field of pseudoenzyme, pseudoenzyme analysis recognizes that during evolution, some enzymes have lost the ability to carry out biological catalysis, which is often reflected in their amino acid sequences and unusual 'pseudocatalytic' properties. Enzymes are known to catalyze more than 5,000 biochemical reaction types. Other biocatalysts include Ribozyme, catalytic RNA molecules, also called ribozymes. They are sometimes descr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Apoptosis
Apoptosis (from ) is a form of programmed cell death that occurs in multicellular organisms and in some eukaryotic, single-celled microorganisms such as yeast. Biochemistry, Biochemical events lead to characteristic cell changes (Morphology (biology), morphology) and death. These changes include Bleb (cell biology), blebbing, Plasmolysis, cell shrinkage, Karyorrhexis, nuclear fragmentation, Pyknosis, chromatin condensation, Apoptotic DNA fragmentation, DNA fragmentation, and mRNA decay. The average adult human loses 50 to 70 1,000,000,000, billion cells each day due to apoptosis. For the average human child between 8 and 14 years old, each day the approximate loss is 20 to 30 billion cells. In contrast to necrosis, which is a form of traumatic cell death that results from acute cellular injury, apoptosis is a highly regulated and controlled process that confers advantages during an organism's life cycle. For example, the separation of fingers and toes in a developing human embryo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SUMO2
Small ubiquitin-related modifier 2 is a protein that in humans is encoded by the ''SUMO2'' gene. Function This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It is a ubiquitin-like protein and functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin, which is primarily associated with targeting proteins for proteasomal degradation, SUMO2 is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last two amino acids of the carboxy-terminus have been cleaved off. Numerous pseudogenes have been reported for this gene. Alternate transcriptional splice variants encoding different isoform A protein isoform, or "protein variant", is a member of a set of highly similar proteins that originate from a single gene and are the res ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SPG20
Spartin is a protein that in humans is encoded by the ''SPG20'' gene. This gene encodes a protein that contains a MIT (Microtubule Interacting and Trafficking molecule) domain. This protein may be involved in endosomal trafficking, microtubule dynamics, or both functions. Spartin loss has been associated to mitochondrial dysfunction, impaired complex I activity and altered pyruvate metabolism. Frameshift mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). Troyer syndrome (SPG20) is a complicated type of hereditary spastic paraplegias (HSPs). HSP is a category of neurological disorder characterized by spasticity and muscle weakness in the lower limbs. Background The original description of this gene mutation and associated symptoms were described in 1967. This mutation is commonly found in high frequency with the Amish population. Newer studies have found that the mutation is not isolated to the Amish population, but also resides ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PARK2
Parkin is a 465-amino acid residue E3 ubiquitin ligase, a protein that in humans and mice is encoded by the ''PARK2'' gene. Parkin plays a critical role in ubiquitination – the process whereby molecules are covalently labelled with ubiquitin (Ub) and directed towards degradation in proteasomes or lysosomes. Ubiquitination involves the sequential action of three enzymes. First, an E1 ubiquitin-activating enzyme binds to inactive Ub in eukaryotic cells via a thioester bond and mobilises it in an ATP-dependent process. Ub is then transferred to an E2 ubiquitin-conjugating enzyme before being conjugated to the target protein via an E3 ubiquitin ligase. There exists a multitude of E3 ligases, which differ in structure and substrate specificity to allow selective targeting of proteins to intracellular degradation. In particular, parkin recognises proteins on the outer membrane of mitochondria upon cellular insult and mediates the clearance of damaged mitochondria via autophagy and ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
HECW2
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 is a protein that in humans is encoded by the HECW2 gene. Clinical significance Mutations in the HECW2 gene have been associated to epilepsy and intellectual disability Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental .... These mutations affect one copy of the HECW2 gene and are believed to change the function of the HECW2 protein. References Further reading * * {{gene-2-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ELAVL1
ELAV-like protein 1 or HuR (human antigen R) is a protein that in humans is encoded by the ''ELAVL1'' gene. The protein encoded by this gene is a member of the ELAVL protein family. This encoded protein contains 3 RNA-binding domains and binds cis-acting AU-rich elements in 3' untranslated regions. One of its best-known functions is to stabilize mRNAs in order to regulate gene expression. Various post-translational modifications of HuR influence its subcellular localization and stability of binding to mRNAs. Structure Of the RNA-binding ELAV/Hu family of proteins in mammals, HuR is the only ubiquitously expressed one, whereas the other three are primarily found in neuronal tissue. Having a well- conserved primary structure to its family members, HuR has two adjacent RNA recognition motifs (RRMs) proximal to the N-terminus, followed by a flexible hinge region next to a final RRM at the C-terminus. The RRM domains of HuR each contain two alpha helices with several antiparallel ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DSE (gene)
Dermatan-sulfate epimerase is an enzyme that in humans is encoded by the ''DSE'' gene. The protein encoded by this gene is an epimerase required for biosynthesis of dermatan sulfate and a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is localized to the endoplasmic reticulum. Two transcript variants encoding the same protein have been found for this gene. Clinical significance * Ehlers-Danlos syndrome Musculocontractural type is associated with mutations in the ''DSE'' gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. 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: protei .... References Further reading * * * * * * * {{gene-6-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amyloid Precursor Protein
Amyloid-beta precursor protein (APP) is an integral membrane protein expressed in many biological tissue, tissues and concentrated in the synapses of neurons. It functions as a cell surface receptor and has been implicated as a regulator of synapse formation, neural plasticity, antimicrobial activity, and iron export. It is coded for by the gene ''APP'' and regulated by substrate presentation. APP is best known as the precursor molecule whose proteolysis generates amyloid beta (Aβ), a polypeptide containing 37 to 49 amino acid residues, whose Amyloid#Structure, amyloid fibrillar form is the primary component of amyloid plaques found in the brains of Alzheimer's disease patients. Genetics Amyloid-beta precursor protein is an ancient and highly Conserved sequence, conserved protein. In humans, the gene ''APP'' is located on chromosome 21 and contains 18 exons spanning 290 kilobases. Several alternative splicing isoforms of APP have been observed in humans, ranging in length ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ACSL3
Long-chain-fatty-acid—CoA ligase 3 is an enzyme that in humans is encoded by the ''ACSL3'' gene. Function The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in brain, and preferentially utilizes myristate, arachidonate, and eicosapentaenoate as substrates. The amino acid sequence of this isozyme is 92% identical to that of rat homolog In biology, homology is similarity in anatomical structures or genes between organisms of different taxa due to shared ancestry, ''regardless'' of current functional differences. Evolutionary biology explains homologous structures as retained her .... Two transcript variants encoding the same pr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Elliptocytosis
Hereditary elliptocytosis, also known as ovalocytosis, is an inherited blood disorder in which an abnormally large number of the person's red blood cells are elliptical rather than the typical biconcave disc shape. Such morphologically distinctive erythrocytes are sometimes referred to as elliptocytes or ovalocytes. It is one of many red-cell membrane defects. In its severe forms, this disorder predisposes to haemolytic anaemia. Although pathological in humans, elliptocytosis is normal in camelids. Presentation RBCs are elleptical in shape rather than normal biconcave shape. Most cases are asymptomatic with abnormalities in their peripheral blood film. Pathophysiology Common hereditary elliptocytosis A number of genes have been linked to common hereditary elliptocytosis (many involve the same gene as forms of hereditary spherocytosis, or HS): These mutations have a common result; they destabilise the cytoskeletal scaffold of cells. This stability is especially important in e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Prostaglandin E2
Prostaglandin E2 (PGE2), also known as dinoprostone, is a naturally occurring prostaglandin with oxytocic properties that is used as a medication. Dinoprostone is used in labor induction, bleeding after delivery, termination of pregnancy, and in newborn babies to keep the ductus arteriosus open. In babies it is used in those with congenital heart defects until surgery can be carried out. It is also used to manage gestational trophoblastic disease. It may be used within the vagina or by injection into a vein. PGE2 synthesis within the body begins with the activation of arachidonic acid (AA) by the enzyme phospholipase A2. Once activated, AA is oxygenated by cyclooxygenase (COX) enzymes to form prostaglandin endoperoxides. Specifically, prostaglandin G2 (PGG2) is modified by the peroxidase moiety of the COX enzyme to produce prostaglandin H2 (PGH2) which is then converted to PGE2. Common side effects of PGE2 include nausea, vomiting, diarrhea, fever, and excessi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
