GNAS polyclonal, anti-human, mouse
€388.00
In stock
SKU
BS72354
Background:
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 contain 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 is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed 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 encoding different isoforms have been found for this gene. 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.
Alternative Name:
AHO,C20orf45,GNAS1,GPSA,GSA,GSP,NESP,POH,SCG6,SgVI
Application Dilution: WB: 1:500 - 1:2000
Specificity: GNAS polyclonal antibody detects endogenous levels of GNAS protein.
Immunogen:
Recombinant protein of human GNAS
MW: ~ 72 kDa
Swis Prot.: O95467/P63092/P84996/Q5JWF2
Purification & Purity:
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is > 95% (by SDS-PAGE).
Format:
1 mg/ml in Phosphate buffered saline (PBS) with 0.05% sodium azide, approx. pH 7.2.
Storage:
Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze-thaw cycles.
For research use only, not for use in diagnostic procedure.
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 contain 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 is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed 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 encoding different isoforms have been found for this gene. 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.
Alternative Name:
AHO,C20orf45,GNAS1,GPSA,GSA,GSP,NESP,POH,SCG6,SgVI
Application Dilution: WB: 1:500 - 1:2000
Specificity: GNAS polyclonal antibody detects endogenous levels of GNAS protein.
Immunogen:
Recombinant protein of human GNAS
MW: ~ 72 kDa
Swis Prot.: O95467/P63092/P84996/Q5JWF2
Purification & Purity:
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is > 95% (by SDS-PAGE).
Format:
1 mg/ml in Phosphate buffered saline (PBS) with 0.05% sodium azide, approx. pH 7.2.
Storage:
Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze-thaw cycles.
For research use only, not for use in diagnostic procedure.
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