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CNO (gene)
Protein cappuccino homolog is a protein that in humans is encoded by the ''CNO'' gene. This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 ( BLOC-1), and is a model for Hermansky–Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. Interactions CNO (gene) has been shown to interact with BLOC1S2 and PLDN Pallidin is a protein that in humans is encoded by the ''PLDN'' gene. Function The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. S .... References External links * Further reading * * * * * * {{gene-4-stub ... [...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 residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metabolic reactions, DNA replication, Cell signaling, responding to stimuli, providing Cytoskeleton, structure to cells and Fibrous protein, organisms, and Intracellular transport, transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the Nucleic acid sequence, nucleotide sequence of their genes, and which usually results in protein folding into a specific Protein structure, 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 pep ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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: protein-coding genes and non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
BLOC-1
BLOC-1 or biogenesis of lysosome-related organelles complex 1 is a ubiquitously expressed multisubunit protein complex in a group of complexes that also includes BLOC-2 and BLOC-3. BLOC-1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules. These organelles are called LROs ( lysosome-related organelles) which are apparent in specific cell-types, such as melanocytes. The importance of BLOC-1 in membrane trafficking appears to extend beyond such LROs, as it has demonstrated roles in normal protein-sorting, normal membrane biogenesis, as well as vesicular trafficking. Thus, BLOC-1 is multi-purposed, with adaptable function depending on both organism and cell-type. Components The identified protein subunits of BLOC-1 include: * pallidin * muted (protein) * dysbindin * cappuccino (protein) * snapin * BLOS1 * BLOS2 * BLOS3 Structure Ultracentrifugation coupled with electron microscop ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hermansky–Pudlak Syndrome
Heřmanský–Pudlák syndrome (often written Hermansky–Pudlak syndrome or abbreviated HPS) is an extremely rare autosomal recessive disorder which results in Albinism, oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosome, lysosomal accumulation of ceroid lipofuscin). It is thought to affect around 1 in 500,000 people worldwide, with a significantly higher occurrence in Puerto Rico, Puerto Ricans, with a prevalence of 1 in 1800. Many of the clinical research studies on the disease have been conducted in Puerto Rico. There are eight classic forms of the disorder, based on the genetic mutation from which the disorder stems. It is named for František Heřmanský (1916–1980) and Pavel Pudlák (1927–1993). Signs and symptoms There are three main disorders caused by Hermansky–Pudlak syndrome, which result in these symptoms: * Albinism and eye ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
BLOC1S2
Biogenesis of lysosome-related organelles complex 1 subunit 2 is a protein that in humans is encoded by the ''BLOC1S2'' 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 .... Interactions BLOC1S2 has been shown to interact with BLOC1S1, SNAPAP, MUTED, CNO and PLDN. References External links * Further reading * * * * * * * * {{gene-10-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
