Skip to content

Warenkorb

Der Warenkorb ist leer.

Gesamt (exkl. MwSt.) £0,00
Warenkorb überprüfen & bezahlen
Antikörper

GNAS antibody - C-terminal region

Produktgrößen
25ul
£177,00
ARP41765-T100-25UL
100 ul
£373,00
ARP41765-T100-100UL
Über dieses Produkt
SKU:
ARP41765-T100
Zusätzliche Namen:
AHO; GSA; GSP; POH; GPSA; NESP; SCG6; SgVI; GNAS1; PITA3; C20orf45
Klonalität:
Polyclonal
Konzentration:
1.0 mg/ml
Weitere Details:
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.
Gendetails:
GNAS complex locus
Host:
Rabbit
Immunogen:
The immunogen is a synthetic peptide directed towards the C terminal region of human GNAS
Molekulargewicht:
42kDa
Proteindetails:
GNAS complex locus EMBL AAH89157.2
Aufreinigung:
Protein A purified
Versandbedingungen:
Blue Ice
Lagerbedingungen:
For short term use; store at 2-8C up to 1 week. For long term storage; store at -20C in small aliquots to prevent freeze-thaw cycles.
Hersteller:
Aviva Systems Biology
Typ:
Antibodies: Polyclonal Antibody