GNAS Antibody

• 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. 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.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.

• NCBI Gene ID:

  2778

• Swiss Prot:

  Q5FWY2

• Accession Number:

  NP_536351

• Host:

  Rabbit

• Reactivity:

  Human, Mouse, Rat, Dog

• Immunogen:

  Antibody produced in rabbits immunized with a synthetic peptide corresponding a region of human GNAS.

• Clonality:

  Polyclonal

• Conjugation:

  Unconjugated

• Type:

  Primary Antibodies

• Field of Research:

  Cancer

• Purification:

  Antibody is purified by protein A chromatography method.

• Positive Control:

  Cat. No. 1205 - Jurkat Cell Lysate

• Concentration:

  Batch dependent

• Buffer:

  Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.

• Modification:

  None

• Shipping Conditions:

  Blue Ice

• Storage Conditions:

  For short periods of storage (days) store at 4˚ C. For longer periods of storage, store GNAS antibody at -20˚ C. As with any antibody avoid repeat freeze-thaw cycles.

• Calculated Molecular Weight:

  42 kDa, 46 kDa, 46 kDa, 44 kDa, 111 kDa

• Applications Notes:

  GNAS antibody can be used for detection of GNAS by ELISA at 1:62500. GNAS antibody can be used for detection of GNAS by western blot at 2.5 μ g/mL, and HRP conjugated secondary antibody should be diluted 1:50,000 - 100,000.

• Symbol:

  GNAS

• NCBI Official Name:

  GNAS complex locus

• NCBI Organism:

  Homo sapiens

• Background Reference 01:

  Linglart, A., (2006) Endocrinology 147 (5), 2253-2262.

• Other Product Names:

  GNAS, AHO, C20orf45, GNAS1, GNASXL, GPSA, GSA, GSP, NESP, NESP55, PHP1A, PHP1B, POH, XL2, XLalphas, PHP1C

• Tested Applications:

  ELISA, WB

• Protein ID:

  18426900

• Physical Properties:

  Liquid