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PPP2R5D
Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform is an enzyme that in humans is encoded by the ''PPP2R5D'' gene. Mutations in ''PPP2R5D'' cause Jordan's Syndrome. Function The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. Interactions PPP2R5D has been shown to interact with: * HAND2, * PPP2CA, * PPP2R1B, and * liprin-alpha-1 Liprin-alpha-1 is a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Jordan's Syndrome
Jordan's Syndrome (JS) or ''PPP2R5D''-related intellectual disability is a rare autosomal dominant neurodevelopmental disorder caused by ''de novo'' mutations in the ''PPP2R5D'' gene. It is characterized by hypotonia, intellectual disability, and macrocephaly. Children with JS may also have epilepsy or meet criteria for diagnosis with autism spectrum disorder. Signs and symptoms Symptoms of Jordan's Syndrome (JS) are not formally defined but typically appear in early childhood and can range from mild to severe global developmental delay and intellectual disability, usually including speech delay and impairment. Patients with JS may meet some or all criteria for diagnosis with autism spectrum disorder due to many shared developmental symptoms. Initial clinical findings may include macrocephaly, hypotonia, epilepsy, ophthalmologic abnormalities, and dysmorphic facial features. Magnetic resonance imaging may further reveal megalencephaly or defects of the lateral ventricle, ventric ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
HAND2
Heart- and neural crest derivatives-expressed protein 2 is a protein that in humans is encoded by the ''HAND2'' gene. Function The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins Hand1 and Hand2, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, this transcription factor plays an important role in limb and branchial arch development. In one study, it was found that a missense mutation of the Hand2 protein in patients with the congenital heart disease (CHD) Tetralogy of Fallot experienced significantly decreased Hand2 interactions with other key developmental genes such as GATA4 and NKX ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PPP2CA
Serine/threonine-protein phosphatase 2A catalytic subunit alpha isoform is an enzyme that (in humans) is encoded by the ''PPP2CA'' gene. Function This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes an alpha isoform of the catalytic subunit. Interactions PPP2CA has been shown to interact with: * Bcl-2, * Bestrophin 1, * CCNG2, * CTTNBP2NL, * CTTNBP2, * Cyclin-dependent kinase 2, * Cyclin-dependent kinase 6, * FAM40A, * IGBP1, * MOBKL3, * PPP2R1A, * PPP2R1B, * PPP2R2A, * PPP2R3B, * PPP2R5A, * PPP2R5B, * PPP2R5C, * PPP2R5D, * PPP2R5E, * STRN3, * STRN, and * TLX1. See also *PPP2CB Serine/threonine-protein ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. Almost all metabolic processes in the 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 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 are catalytic RNA molecules, called ribozymes. Enzymes' specificity comes from their unique three-dimensional structures. Like all catalysts, enzymes increase the reaction ra ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and 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 noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
