Anti-DNA Polymerase gamma Antibody (CAB1323)

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주문
SKU:
CAB1323
Product type:
Antibody
Antibody Type:
Monoclonal Antibody
Reactivity:
Human
Reactivity:
Mouse
Reactivity:
Rat
Host Species:
Rabbit
Isotype:
IgG
Synonyms:
MDP1
Synonyms:
MIRAS
Synonyms:
MTDPS4A
Synonyms:
MTDPS4B
Synonyms:
PEO
Synonyms:
POLG1
Synonyms:
POLGA
Synonyms:
SANDO
Synonyms:
SCAE
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Description

Product Name:DNA Polymerase gamma Rabbit mAb
Product Code:CAB1323
Size:20uL, 50uL, 100uL
Synonyms:MDP1, MIRAS, MTDPS4A, MTDPS4B, PEO, POLG1, POLGA, SANDO, SCAE
Applications:WB
Reactivity:Human, Mouse, Rat
Host Species:Rabbit
Immunogen:A synthesized peptide derived from human DNA Polymerase gamma
Applications:WB
Recommended Dilutions:WB 1:500 - 1:2000
Reactivity:Human, Mouse, Rat
Positive Samples:HT-29, 293T, Mouse testis, Mouse brain, Rat liver, Rat testis
Immunogen:A synthesized peptide derived from human DNA Polymerase gamma
Purification Method:Affinity purification
Storage:Store at -20°C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 0.05% BSA, 50% glycerol, pH7.3.
Isotype:IgG
Sequence:Email for sequence
Gene ID:5428
Uniprot:P54098
Cellular Location:Mitochondrion, Mitochondrion matrix, mitochondrion nucleoid
Calculated MW:140kDa
Observed MW:140kDa
UniProt Protein Function:POLG: Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA. Defects in POLG are the cause of progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 1 (PEOA1). Progressive external ophthalmoplegia is characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged- red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Defects in POLG are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB). PEOB is a severe form of progressive external ophthalmoplegia. It is clinically more heterogeneous than the autosomal dominant forms. Can be more severe. Defects in POLG are a cause of sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO). SANDO is a systemic disorder resulting from mitochondrial dysfunction associated with mitochondrial depletion in skeletal muscle and peripheral nerve tissue. The clinical triad of symptoms consists of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. However, the phenotype varies widely, even within the same family, and can also include myopathy, seizures, and hearing loss. An atypical form of the disease is characterized by headaches and/or seizures manifesting in childhood or adolescence, followed by development of cerebellar and sensory ataxia, dysarthria, progressive external ophthalmoplegia, and myoclonus in early adulthood. Defects in POLG are the cause of mitochondrial DNA depletion syndrome type 4A (MTDPS4A); also called Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis. An autosomal recessive hepatocerebral syndrome. The typical course of the disease includes severe developmental delay, intractable seizures, liver failure, and death in childhood. Refractory seizures, cortical blindness, progressive liver dysfunction, and acute liver failure after exposure to valproic acid are considered diagnostic features. The neuropathological hallmarks are neuronal loss, spongiform degeneration, and astrocytosis of the visual cortex. Liver biopsy results show steatosis, often progressing to cirrhosis. Defects in POLG are the cause of mitochondrial DNA depletion syndrome type 4B (MTDPS4B); also known as mitochondrial DNA depletion syndrome 4B MNGIE type or mitochondrial neurogastrointestinal encephalopathy syndrome POLG- related. An autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudo-obstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness. Defects in POLG are a cause of Leigh syndrome (LS). LS is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions. Belongs to the DNA polymerase type-A family.
UniProt Protein Details:

Protein type:DNA replication; Transferase; Mitochondrial; EC 2.7.7.7; DNA repair, damage

Chromosomal Location of Human Ortholog: 15q25

Cellular Component: mitochondrion; protein complex

Molecular Function:3'-5' exonuclease activity; chromatin binding; DNA-directed DNA polymerase activity; protease binding; protein binding

Biological Process: base-excision repair, gap-filling; DNA metabolic process; DNA-dependent DNA replication; mitochondrial DNA replication

Disease: Mitochondrial Dna Depletion Syndrome 1 (mngie Type); Mitochondrial Dna Depletion Syndrome 4a (alpers Type); Mitochondrial Dna Depletion Syndrome 4b (mngie Type); Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 1; Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive; Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis

NCBI Summary:Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
UniProt Code:P54098
NCBI GenInfo Identifier:1706507
NCBI Gene ID:5428
NCBI Accession:P54098.1
UniProt Secondary Accession:P54098,Q8NFM2, Q92515,
UniProt Related Accession:P54098
Molecular Weight:139,562 Da
NCBI Full Name:DNA polymerase subunit gamma-1
NCBI Synonym Full Names:DNA polymerase gamma, catalytic subunit
NCBI Official Symbol:POLG  
NCBI Official Synonym Symbols:PEO; MDP1; SCAE; MIRAS; POLG1; POLGA; SANDO; MTDPS4A; MTDPS4B  
NCBI Protein Information:DNA polymerase subunit gamma-1
UniProt Protein Name:DNA polymerase subunit gamma-1
UniProt Synonym Protein Names:Mitochondrial DNA polymerase catalytic subunit; PolG-alpha
Protein Family:DNA polymerase
UniProt Gene Name:POLG  
UniProt Entry Name:DPOG1_HUMAN
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