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.1) Idziaszczyk, S., et al. Cancer Genet. Cytogenet. 202(1):67-69(2010)
Immunogen
This GNAS antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 217-244 amino acids from the C-terminal region of human GNAS.
Western blot analysis in NCI-H460 cell line lysates (35ug/lane).
Application Notes
For WB starting dilution is: 1:1000:
Additional Information
Form
Liquid
Storage Instructions
Store at 4˚C for three months and -20˚C, stable for up to one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.