Product info:

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 contain 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.

Alternative names:

GNAS; AHO; C20orf45; GNAS1; GPSA; GSA; GSP; NESP; POH; SCG6; SgVI

Species reactivity:

Human, Mouse

Host:

Rabbit

Cellular localisation:

Cell membrane By similarity; Lipid-anchor By similarity

Isotype:

IgG

Immunogen:

Recombinant protein of human GNAS

Positive control:

NCI-H460, SW620, Mouse skeletal muscle, Mouse brain, Mouse heart

AA Sequence:

Email info@sobekbio.com for sequence

Purification:

Affinity purification

Molecular weight:

Calculated MW: 28kDa/44kDa/45kDa/77kDa/109kDa/111kDa Observed MW: 43kDa

Form:

Liquid

Applications:

Request info at info@sobekbio.com

Dilution:

WB 1:500 - 1:2000

Storage buffer:

Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

Storage:

Store at 4°C short term. For long-term storage, aliquot and store at -20°C or below. Stable for 12 months at -20°C. Avoid repeated freeze-thaw cycles.

More info:

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