GNAS Complex Locus (GNAS) Peptid
GNAS
Reaktivität: Human
Wirt: Synthetic
BP, WB
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- Target Alle GNAS Produkte
- GNAS (GNAS Complex Locus (GNAS))
- Spezies
- Human
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Quelle
- Synthetic
- Applikation
- Blocking Peptide (BP), Western Blotting (WB)
- Produktmerkmale
- This is a synthetic peptide designed for use in combination with anti-GNAS antibody (Catalog #: ARP41765_T100). It may block above mentioned antibody from binding to its target protein in western blot and/or immunohistochecmistry under proper experimental settings. There is no guarantee for its use in other applications.
- Aufreinigung
- Purified
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- Applikationshinweise
- Each Investigator should determine their own optimal working dilution for specific applications.
- Beschränkungen
- Nur für Forschungszwecke einsetzbar
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- Format
- Lyophilized
- Rekonstitution
- Add 100 μL of sterile PBS. Final peptide concentration is 1 mg/mL in PBS.
- Konzentration
- 1 mg/mL
- Buffer
- Final peptide concentration is 1 mg/mL in PBS.
- Handhabung
- Avoid repeated freeze-thaw cycles.
- Lagerung
- -20 °C
- Informationen zur Lagerung
- For longer periods of storage, store at -20°C. Avoid repeat freeze-thaw cycles.
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- Target
- GNAS (GNAS Complex Locus (GNAS))
- Hintergrund
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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. 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.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: AHO, C20orf45, GNAS1, GNASXL, GPSA, GSA, GSP, NESP, NESP55, PHP1A, PHP1B, POH, XL2, XLalphas, PHP1C
Protein Interaction Partner: GNB1,TTC1,TTC1,ADCY2,ADCY5,ADCY6,ADORA1,ADRB3,AVPR2,CAV3,CRHR1,GCGR,GNAS,GNGT1,HTR6,LHB,LHCGR,NUCB1,PTGDR,PTGIR,RGS2,RIC8A,RIC8B,SNX13,TSHR,TTC1,VIPR1,ADCY6,CRHR1,FSCN1,GNAS,MDM2,PAICS,RGS2,RIC8A,RUVBL1,SHMT2,SNX13,TTC1,VIPR1
Protein Size: 380 - Molekulargewicht
- 42 kDa
- Gen-ID
- 2778
- NCBI Accession
- NM_080426, NP_536351
- UniProt
- Q5FWY2
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