GNAS, CT (GNAS, GNAS1, Neuroendocrine secretory protein 55, LHAL tetrapeptide, GPIPIRRH peptide) (APC)

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 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.\n\nApplications:\nSuitable for use in Western Blot, ELISA\n\nRecommended Dilution:\nELISA: 1:1,000\nWestern Blot: 1:100-500\n\nStorage and Stability:\nMay be stored at 4 degrees C for short-term only. Aliquot to avoid repeated freezing and thawing. Do not freeze APC conjugates. Light sensitive. Aliquots are stable for 6 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

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SPECIFICATIONS

Catalog Number

036130-APC

Size

200ul

Applications

WB

Hosts

Rabbit

Reactivities

Hum

Form

Supplied as a liquid in PBS, pH 7.2. Contains ~0.09% sodium azide. Conjugated to Allophycocyanin (APC).

P Type

Pab

Purity

Purified by Protein A affinity chromatography.

Isotype

IgG

References

1. Idziaszczyk, S., et al. (2010)Cancer Genet. Cytogenet. 202(1):67-69. 2.Bailey, S.D., et al. (2010)Diabetes Care 33(10):2250-2253. 3.Tominaga, E., et al. (2010)Gynecol. Oncol. 118(2):160-166. 4.Park, C.H., et al. (2010)Ann. Clin. Lab. Sci. 40(3):261-266. 5.Cross, D.S., et al.(2010) BMC Genet. 11, 51.

Additional Info

Recognizes human GNAS.

Alternative Names

GNAS, GNAS1, Neuroendocrine secretory protein 55, LHAL tetrapeptide, GPIPIRRH peptide