GNAS Antibody-多抗-深圳欣博盛生物科技有限公司

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GNAS Antibody

品牌：ProSci LLC

官网链接

说明书

折扣/货期

货号：29-791

规格：100 ul

目录价：￥8301.15

产品详情

* 以下信息仅供参考，详情请以原厂网站为准

产品名称:

GNAS Antibody

别名:

GNAS, RP4-543J19.4, AHO, C20orf45, GNAS1, GPSA, GSA, GSP, MGC33735, PHP1A, PHP1B, POH, dJ309F20.1.1, dJ806M20.3.3, NESP, PHP1C

反应种属:

Human

宿主来源:

Rabbit

实验应用:

ELISA,WB,IHC

克隆性:

Polyclonal

纯化方式:

Antibody is purified by protein A chromatography method.

偶联:

Unconjugated

产品浓度:

batch dependent

保存温度:

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.

运输温度:

Blue Ice

产品形式:

Liquid

存储溶液:

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

产地:

美国

生产商:

Prosci

功能与背景:

Mutations in GNAS 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.

Accession #:

NP_536351

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