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Anti-C10orf2 Antibody

品牌：Antibodies

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規(guī)格：50μl

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Anti-C10orf2 Antibody

商品詳情參考文獻(xiàn) 相關(guān)資料

Overview

Name:	Anti-C10orf2 Antibody See all C10orf2 primary antibodies
Description:	Rabbit polyclonal antibody to C10orf2
Specificity:	C10orf2 pAb detects endogenous levels of C10orf2 protein.
Applications:	WB, IHC, IF
Reactivity:	Human, Mouse, Rat
Immunogen:	Recombinant full length Human C10orf2.
Host:	Rabbit
Clonality:	Polyclonal
Conjugate:	Unconjugated
Molecular Weight:	~77 kDa
Purity:	The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is > 95% (by SDS-PAGE).
Product Form:	1mg/ml in PBS?with?0.1%?Sodium?Azide,?50%?Glycerol.

Target

Function:	Involved in mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNA helicase. Function inferred to be critical for lifetime maintenance of mtDNA integrity. In vitro, forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammals.
Tissue Specificity:	High relative levels in skeletal muscle, testis and pancreas. Lower levels of expression in the heart, brain, placenta, lung, liver, kidney, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes. Expression is coregulated with MRPL43.
Involvement in Disease:	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3: A disorder 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. Mitochondrial DNA depletion syndrome 7: A severe disease associated with mitochondrial dysfunction. Some patients are affected by progressive atrophy of the cerebellum, brain stem, the spinal cord, and sensory axonal neuropathy. Clinical features include hypotonia, athetosis, ataxia, ophthalmoplegia, sensorineural hearing deficit, sensory axonal neuropathy, epileptic encephalopathy and female hypogonadism. In some individuals liver dysfunction and multi-organ failure is present. Perrault syndrome 5: A form of Perrault syndrome, a sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile.
Cellular Location:	Mitochondrion matrix > Mitochondrion nucleoid. Colocalizes with mtDNA in mitochondrial nucleoids, a nucleoproteins complex consisting of a number of copies of proteins associated with mtDNA, probably involved in mtDNA maintenance and expression.