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Abnova
GNAS Polyclonal Antibody, MaxPab™
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GNAS Antibody (H00002778-D01P) in WB
Western Blot analysis of GNAS expression in transfected 293T cell line (H00002778-T02) by GNAS MaxPab polyclonal antibody.
Lane 1: GNAS transfected lysate(45.70 KDa).
Lane 2: Non-transfected lysate.
Lane 1: GNAS transfected lysate(45.70 KDa).
Lane 2: Non-transfected lysate.
产品信息
H00002778-D01P
产品规格
宿主/亚型
Rabbit
/ IgG
分类
Polyclonal
类型
Antibody
抗原
GNAS (NP_000507.1, 1 a.a. approximately 394 a.a) full-length human protein.
偶联物
形式
Liquid
浓度
See Label
规格
100 µg
保存条件
-20°C, Avoid Freeze/Thaw Cycles
运输条件
Ambient (domestic); Wet ice (international)
产品详细信息
Sequence of this protein is as follows: MGCLGNSKTE DQRNEEKAQR EANKKIEKQL QKDKQVYRAT HRLLLLGAGE SGKSTIVKQM RILHVNGFNG EGGEEDPQAA RSNSDGEKAT KVQDIKNNLK EAIETIVAAM SNLVPPVELA NPENQFRVDY ILSVMNVPDF DFPPEFYEHA KALWEDEGVR ACYERSNEYQ LIDCAQYFLD KIDVIKQADY VPSDQDLLRC RVLTSGIFET KFQVDKVNFH MFDVGGQRDE RRKWIQCFND VTAIIFVVAS SSYNMVIRED NQTNRLQEAL NLFKSIWNNR WLRTISVILF LNKQDLLAEK VLAGKSKIED YFPEFARYTT PEDATPEPGE DPRVTRAKYF IRDEFLRIST ASGDGRHYCY PHFTCAVDTE NIRRVFNDCR DIIQRMHLRQ YELL
靶标信息
Mutations in 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 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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
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