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GNAS Complex Locus (GNAS) (N-Term) Peptid

GNAS Reaktivität: Human Wirt: Synthetic BP, WB, IHC
Produktnummer ABIN977524

Kurzübersicht für GNAS Complex Locus (GNAS) (N-Term) Peptid (ABIN977524)

Target

GNAS (GNAS Complex Locus (GNAS))

Spezies

Human

Quelle

  • 9
Synthetic

Applikation

Blocking Peptide (BP), Western Blotting (WB), Immunohistochemistry (IHC)
  • Protein Region

    N-Term

    Produktmerkmale

    This is a synthetic peptide designed for use in combination with anti-GNAS antibody (Catalog #: ARP42693_P050). 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
  • Applikationshinweise

    Each Investigator should determine their own optimal working dilution for specific applications.

    Beschränkungen

    Nur für Forschungszwecke einsetzbar
  • 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.
  • Target

    GNAS (GNAS Complex Locus (GNAS))

    Hintergrund

    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.

    Alias Symbols: AHO, C20orf45, GNAS1, GPSA, GSA, GSP, MGC33735, PHP1A, PHP1B, POH, dJ309F20.1.1, dJ806M20.3.3, NESP, 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: 394

    Molekulargewicht

    46 kDa

    Gen-ID

    2778

    NCBI Accession

    NM_000516, NP_000507

    UniProt

    P63092
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