Thermo Fisher Scientific GNAS Polyclonal Antibody

Applications

• Western Blot (WB): 1:1,000
• Immunohistochemistry (Paraffin) (IHC (P)): 5 µg/mL

Product Specifications

Product Specific Information

• Peptide sequence:
  VYRATHRLLL LGAGESGKST IVKQMRILHV NGFNGEGGEE DPQAARSNSD

• Sequence homology:
  Cow: 100%
  Dog: 100%
  Guinea Pig: 100%
  Horse: 100%
  Human: 100%
  Mouse: 100%
  Rabbit: 93%
  Rat: 100%

Target Information

Mutations in the GNAS gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseous heteroplasia, polyostotic fibrous dysplasia of bone, and certain pituitary tumors.
This gene exhibits a complex imprinted expression pattern, producing maternally, paternally, and biallelically expressed proteins from alternatively spliced transcripts with alternate 5’ exons. Each upstream exon resides in a differentially methylated region typical of imprinted genes. The proximity (14 kb) of oppositely expressed promoter regions is unusual. One alternate 5’ exon introduces a frameshift, yielding a structurally distinct isoform. An antisense transcript may regulate imprinting in this region.
Mutations in GNAS are linked to pseudohypoparathyroidism type 1a (PHP1a), with an atypical autosomal dominant inheritance requiring maternal transmission for full penetrance.

For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.

제품 이미지

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PA5-42229_GNAS_O95467-1_Rabbit.svg
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PA5-42229_GNAS_Q5JWF2-1_Rabbit.svg
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PA5-42229_GNAS_P84996-1_Rabbit.svg
PA5-42229_GNAS_P84996-1_Rabbit_PDP.jpeg)