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Cerebrohepatorenal Syndrome
Zellweger syndrome is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called Zellweger spectrum disorders which are leukodystrophies. Zellweger syndrome is named after Hans Zellweger (1909–1990), a Swiss-American pediatrician, a professor of pediatrics and genetics at the University of Iowa who researched this disorder. Signs and symptoms Zellweger syndrome is one of three peroxisome biogenesis disorders which belong to the Zellweger spectrum of peroxisome biogenesis disorders (PBD-ZSD). The other two disorders are neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). Although all have a similar molecular basis for disease, Zellweger syndrome is the most severe of these three disorders. Zellweger syndrome is associated with impaired neuronal migration, neuronal positioning, and brain development. In addition, individuals with Zellweger ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pneumonia
Pneumonia is an inflammatory condition of the lung primarily affecting the small air sacs known as alveoli. Symptoms typically include some combination of productive or dry cough, chest pain, fever, and difficulty breathing. The severity of the condition is variable. Pneumonia is usually caused by infection with viruses or bacteria, and less commonly by other microorganisms. Identifying the responsible pathogen can be difficult. Diagnosis is often based on symptoms and physical examination. Chest X-rays, blood tests, and culture of the sputum may help confirm the diagnosis. The disease may be classified by where it was acquired, such as community- or hospital-acquired or healthcare-associated pneumonia. Risk factors for pneumonia include cystic fibrosis, chronic obstructive pulmonary disease (COPD), sickle cell disease, asthma, diabetes, heart failure, a history of smoking, a poor ability to cough (such as following a stroke), and a weak immune system. Vaccines to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hepatomegaly
Hepatomegaly is the condition of having an enlarged liver. It is a non-specific medical sign having many causes, which can broadly be broken down into infection, hepatic tumours, or metabolic disorder. Often, hepatomegaly will present as an abdominal mass. Depending on the cause, it may sometimes present along with jaundice. Signs and symptoms The individual may experience many symptoms, including weight loss, poor appetite and lethargy (jaundice and bruising may also be present). Causes Among the causes of hepatomegaly are the following: Infective Mechanism The mechanism of hepatomegaly consists of vascular swelling, inflammation (due to the various causes that are infectious in origin) and deposition of (1) non-hepatic cells or (2) increased cell contents (such due to iron in hemochromatosis or hemosiderosis and fat in fatty liver disease). Diagnosis Suspicion of hepatomegaly indicates a thorough medical history and physical examination, wherein the latter typically incl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PEX13
Peroxisomal membrane protein PEX13 is a protein that in humans is encoded by the ''PEX13'' gene. It located on chromosome 2 next to KIAA1841 Interactions PEX13 has been shown to interact with PEX14, PEX5 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 Disorders, Zellweger Syndrome SpectrumOMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum {{gene-2-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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] |
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] |
PEX6
Peroxisome assembly factor 2 is a protein that in humans is encoded by the ''PEX6'' gene. PEX6 is an AAA ATPase that localizes to the peroxisome. PEX6 forms a hexamer with PEX1 and is recruited to the membrane by PEX26. Function From yeast to plants to humans, there is only one verified function of PEX6; PEX6 (and PEX1) removes PEX5 from the peroxisomal membrane so that PEX5 may do additional rounds of peroxisomal import. Human PEX6 can genetically complement plant ''pex6'' mutants, which highlights functional conservation. Work with ''pex6'' mutants in '' Arabidopsis thaliana'' has shown that PEX6 may have a role in consuming oil body (plant-specific lipid droplets). Work with yeast ''pex6'' mutants has shown that PEX6 is a key player in the autophagy of peroxisomes called pexophagy. Related diseases Mutations in the genes encoding PEX6, along with PEX1, are the leading causes of peroxisomal biogenesis disorders, such as Zellweger Syndrome spectrum, infantile Refsum dise ... [...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] |
PEX3
Peroxisomal biogenesis factor 3 is a protein that in humans is encoded by the ''PEX3'' gene. Interactions PEX3 has been shown to interact with PEX19 Peroxisomal biogenesis factor 19 is a protein that in humans is encoded by the ''PEX19'' gene. Interactions PEX19 has been shown to interact with: * ABCD1, * ABCD2, * ABCD3, * PEX10, * PEX11B, * PEX12, * PEX13 Peroxisomal membrane p .... References Further reading * * * * * * * * * * * * * * * External links GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome SpectrumOMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum {{gene-6-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PEX2
Peroxisomal biogenesis factor 2 is a protein that in humans is encoded by the ''PEX2'' gene. This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease Infantile Refsum disease (IRD) is a rare autosomal recessive congenital peroxisomal biogenesis disorder within the Zellweger spectrum. These are disorders of the peroxisomes that are clinically similar to Zellweger syndrome and associated with .... Alternative splicing results in multiple transcript variants encoding the same protein. References Further reading * * * * * * * * * * * * * * * * * * External links GeneReviews/NCBI/NIH/UW entry on Peroxisome Biogenesis Disorders, Zellweger Syndrome SpectrumOMIM entries on Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum {{gene-8-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PEX1
Peroxisome biogenesis factor 1, also known as PEX1, is a protein which in humans is encoded by the ''PEX1'' gene. This gene encodes a member of the AAA protein family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Interactions PEX1 has been shown to interact with PEX6 and PEX26 Peroxisome assembly protein 26 is a protein that in humans is encoded by the ''PEX26'' gene. Interactions PEX26 has been shown to interact with PEX1, PEX6 and SUFU Suppressor of fused homolog is a protein that in humans is encoded by the ' .... References Further reading * * * * * * * * * * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Peroxisomes
A peroxisome () is a membrane-bound organelle, a type of microbody, found in the cytoplasm of virtually all eukaryotic cells. Peroxisomes are oxidative organelles. Frequently, molecular oxygen serves as a co-substrate, from which hydrogen peroxide (H2O2) is then formed. Peroxisomes owe their name to hydrogen peroxide generating and scavenging activities. They perform key roles in lipid metabolism and the conversion of reactive oxygen species. Peroxisomes are involved in the catabolism of very long chain fatty acids, branched chain fatty acids, bile acid intermediates (in the liver), D-amino acids, and polyamines, the reduction of reactive oxygen species – specifically hydrogen peroxide – and the biosynthesis of plasmalogens, i.e., ether phospholipids critical for the normal function of mammalian brains and lungs. They also contain approximately 10% of the total activity of two enzymes (Glucose-6-phosphate dehydrogenase and 6-Phosphogluconate dehydrogenase) in the pentose ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
