GNAS anticorps (N-Term)
Aperçu rapide pour GNAS anticorps (N-Term) (ABIN2775543)
Antigène
Voir toutes GNAS AnticorpsReactivité
Hôte
Clonalité
Conjugué
Application
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Épitope
- N-Term
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Séquence
- SGKSTIVKQM RILHVNGFNG DSEKATKVQD IKNNLKEAIE TIVAAMSNLV
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Homologie
- Cow: 93%, Human: 100%, Mouse: 100%, Pig: 100%, Rabbit: 93%, Rat: 100%
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Attributs du produit
- This is a rabbit polyclonal antibody against GNAS. It was validated on Western Blot and immunohistochemistry.
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Purification
- Protein A purified
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Immunogène
- The immunogen is a synthetic peptide directed towards the N terminal region of human GNAS
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Indications d'application
- Optimal working dilutions should be determined experimentally by the investigator.
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Commentaires
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Antigen size: 380 AA
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Restrictions
- For Research Use only
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Format
- Liquid
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Concentration
- Lot specific
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Buffer
- Liquid. Purified antibody supplied in 1x PBS buffer with 0.09 % (w/v) sodium azide and 2 % sucrose.
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Agent conservateur
- Sodium azide
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Précaution d'utilisation
- This product contains Sodium azide: a POISONOUS AND HAZARDOUS SUBSTANCE which should be handled by trained staff only.
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Conseil sur la manipulation
- Avoid repeated freeze-thaw cycles.
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Stock
- -20 °C
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Stockage commentaire
- For short term use, store at 2-8°C up to 1 week. For long term storage, store at -20°C in small aliquots to prevent freeze-thaw cycles.
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- GNAS (GNAS Complex Locus (GNAS))
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Autre désignation
- GNAS
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Sujet
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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 gene has a highly complex imprinted expression pattern. It encodes maternally, paternally, and biallelically expressed proteins which are derived from alternatively spliced transcripts with alternate 5' exons. Each of the upstream exons is within a differentially methylated region, commonly found in imprinted genes. However, the close proximity (14 kb) of two oppositely expressed promoter regions is unusual. In addition, one of the alternate 5' exons introduces a frameshift relative to the other transcripts, resulting in one isoform which is structurally unrelated to the others. An antisense transcript exists, and may regulate imprinting in this region. Mutations in this gene result in pseudohypoparathyroidism type 1a (PHP1a), which has an atypical autosomal dominant inheritance pattern requiring maternal transmission for full penetrance. There are RefSeqs representing four transcript variants of this gene. Other transcript variants including four additional exons have been described, however, their full length sequences have not been determined.
Alias Symbols: RP4-543J19.4, AHO, C20orf45, GNAS1, GPSA, GSA, GSP, MGC33735, PHP1A, PHP1B, POH, dJ309F20.1.1, dJ806M20.3.3, NESP, PHP1C
Protein Interaction Partner: PANX1, AXIN1, UBC, FUS, OPTN, PTGIR, HLA-A, ADRB2, NUCB2, NUCB1, LAMTOR1, SLC25A12, GNAQ, GNA11, UBD, TBXA2R, GNB1, AVPR2, SUMO1, PCK1, Ric8b, GNG2, CALM1, Haus1, Trim69, Cbx1, RIC8A, TTC1, SNX13, ADCY5, CRHR1, PTGDR, TSHR, CAV3, HTR6, RGS2, ADCY6, VIPR1,
Protein Size: 380 -
Poids moléculaire
- 42 kDa
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ID gène
- 2778
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NCBI Accession
- NM_080426, NP_536351
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UniProt
- Q5FWY2
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Pathways
- Thyroid Hormone Synthesis, cAMP Metabolic Process, Myometrial Relaxation and Contraction, Embryonic Body Morphogenesis
Antigène
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