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PEX12
Peroxisome assembly protein 12 is a protein that in humans is encoded by the ''PEX12'' gene. Function PEX12 is needed for protein import into peroxisomes. This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. Clinical significance The peroxisome biogenesis disorders (PBDs; MIM 601539) are a group of genetically heterogeneous diseases that are usually lethal in early infancy. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. This cellular phenotype is shared by yeast 'pex' mutants, and human orthologs of yeast PEX genes defective in some PBD complementation groups (CGs). Interactions PEX12 has been shown to interact with PEX10, PEX5 and PEX19 Peroxisomal biogenesis factor 19 is a protein that in humans is encoded by the ''PEX19'' gene. Interactions PEX19 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PEX5
Peroxisomal targeting signal 1 receptor (PTS1R) is a protein that in humans is encoded by the ''PEX5'' gene. PTS1R is a peroxisomal targeting sequence involved in the specific transport of molecules for oxidation inside the peroxisome. SKL binds to PTS1R in the cytosol followed by binding to the Pex14p receptor allowing importation of the peroxisomal protein through the pexsubunit transporter. Diseases associated with dysfunctional PTS1R receptors include X-linked adrenoleukodystrophy and Zellweger syndrome. Interactions PEX5 has been shown to interact with PEX12, PEX13 and PEX14 Peroxisomal membrane protein PEX14 is a protein that in humans is encoded by the ''PEX14'' gene. Function This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with i .... References Further reading * * * * * * * * * * * * * * * * * * * * * External links GeneReviews/NCBI/NIH/UW entry ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PEX10
Peroxisome biogenesis factor 10 is a protein that in humans is encoded by the ''PEX10'' gene. Alternative splicing results in two transcript variants encoding different isoforms. Function Peroxisome biogenesis factor 10 is involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Clinical significance Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Interactions PEX10 has been shown to interact with PEX12 and PEX19 Peroxisomal biogenesis factor 19 is a protein that in humans is encoded by the ''PEX19'' gene. Interactions PEX19 has been shown to Protein-protein interaction, interact with: * ABCD1, * ABCD2, * ABCD3, * PEX10, * PEX11B, * PEX12, * PEX .... References Further reading * * * * * * * * * * * * * * External links GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disord ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Peroxisome Biogenesis Disorder
Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. This may be due to defects in single enzymes important for peroxisome function or in peroxins, proteins encoded by ''PEX'' genes that are critical for normal peroxisome assembly and biogenesis. Peroxisome biogenesis disorders Peroxisome biogenesis disorders (PBDs) include the Zellweger syndrome spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata type 1 (RCDP1). PBD-ZSD represents a continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome. Collectively, PBDs are autosomal recessive developmental brain disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and retinopathy. PBD-ZSD is most commonly caused by mutations in the ''PEX1'', ''PEX6'', ''PEX10'', ''PEX12'', and ''PEX26'' genes. This results in the over-accumulation of very long chain fatt ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Peroxin
Peroxins (or peroxisomal/peroxisome biogenesis factors) represent several protein families found in peroxisomes. Deficiencies are associated with several peroxisomal disorders. Peroxins serve several functions including the recognition of cytoplasmic proteins that contain peroxisomal targeting signals (PTS) that tag them for transport by peroxisomal proteins to the peroxisome. Peroxins are structurally diverse and have been classified to different protein families. Some of them were predicted to be single-pass transmembrane proteins, for example Peroxisomal biogenesis factor 11 Pernoxin is a value of venomosity to animalia. Genes * PEX1 * PEX2 * PEX3 * PEX5 * PEX6 * PEX7 * PEX10 * PEX11A, PEX11B, PEX11G * PEX12 * PEX13 * PEX14 * PEX16 * PEX19 * PEX26 References Gene families Transmembrane proteins {{biochem-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 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] |
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] |
