GNAS anticorps
Aperçu rapide pour GNAS anticorps (ABIN2458682)
Antigène
Voir toutes GNAS AnticorpsReactivité
Hôte
Clonalité
Conjugué
Application
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Purification
- Antibody is purified by peptide affinity chromatography method.
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Immunogène
- Antibody produced in rabbits immunized with a synthetic peptide corresponding a region of human GNAS.
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Indications d'application
- GNAS antibody can be used for detection of GNAS by ELISA at 1:62500. GNAS antibody can be used for detection of GNAS by western blot at 1 μg/mL, and HRP conjugated secondary antibody should be diluted 1:50,000 - 100,000.
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Restrictions
- For Research Use only
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Format
- Lyophilized
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Reconstitution
- Add 50 ?L of distilled water. Final antibody concentration is 1 mg/mL.
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Concentration
- 1 mg/mL
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Buffer
- Antibody is lyophilized in PBS buffer with 2 % sucrose.
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Conseil sur la manipulation
- As with any antibody avoid repeat freeze-thaw cycles.
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Stock
- 4 °C/-20 °C
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Stockage commentaire
- For short periods of storage (days) store at 4 °C. For longer periods of storage, store GNAS antibody at -20 °C.
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- GNAS (GNAS Complex Locus (GNAS))
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Autre désignation
- GNAS
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Sujet
- Mutations in GNAS gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contains a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript exists, and this antisense transcript and one of the transcripts are paternally expressed, produce noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants have been found for this gene, but the full-length nature and/or biological validity of some variants have not been determined. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors.
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Poids moléculaire
- 46 kDa
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ID gène
- 2778
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NCBI Accession
- NP_000507
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UniProt
- P63092
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Pathways
- Thyroid Hormone Synthesis, cAMP Metabolic Process, Myometrial Relaxation and Contraction, Embryonic Body Morphogenesis
Antigène
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