Sku |
AAP42694 |
Old sku |
AAPP24925 |
Price |
$99.00 |
Name |
GNAS Peptide (AAP42694) |
Purchase info |
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|
Size |
100 ug |
Gene |
GNAS |
Alias symbols |
RP4-543J19.4, AHO, C20orf45, GNAS1, GPSA, GSA, GSP, MGC33735, PHP1A, PHP1B, POH, dJ309F20.1.1, dJ806M20.3.3, NESP, PHP1C |
Gene id |
2778 |
Description of target |
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. |
Swissprot id |
Q5FWY2 |
Protein accession num |
NP_536351 |
Nucleotide accession num |
NM_080426 |
Protein size |
380 amino acids |
Molecular weight |
42kDa |
Application |
IHC, WB |
Partner proteins |
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 |
Quality control |
The peptide is characterized by mass spectroscopy |
Key reference |
Linglart,A., (2006) Endocrinology 147 (5), 2253-2262 |
Description |
This is a synthetic peptide designed for use in combination with anti-GNAS antibody (Catalog #: ARP42694_T100) made by Aviva Systems Biology. 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. Please inquire for more details. |
Product format |
Lyophilized powder |
Reconstitution and storage |
Add 100ul of sterile PBS. Final peptide concentration is 1 mg/ml in PBS. For longer periods of storage, store at -20C. Avoid repeat freeze-thaw cycles. |
Lead time |
Domestic: within 24 hours delivery International: 3-5 business days |
Protocol |
|
Tips |
See our General FAQ page. |
Availability |
In Stock |