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Invitrogen
RSPRY1 Polyclonal Antibody
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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
产品信息
PA5-51993
产品规格
种属反应
Human
宿主/亚型
Rabbit
/ IgG
分类
Polyclonal
类型
Antibody
抗原
偶联物
Unconjugated
Unconjugated
Unconjugated
形式
Liquid
浓度
0.1 mg/mL
规格
10 µg
纯化类型
Antigen affinity chromatography
保存液
PBS, pH 7.2, with 40% glycerol
内含物
0.02% sodium azide
保存条件
Store at 4°C short term. For long term storage, store at -20°C, avoiding freeze/thaw cycles.
运输条件
Ambient (domestic); Wet ice (international)
RRID
产品详细信息
Immunogen sequence: GRGPHEPRRK KQNVDGLVLD TLAVIRTLVD NDQEPPYSMI TLHEMAETDE GWLDVVQSLI RVIPLEDPLG PAVITLLLDE CPLPTKDALQ KLTEILNLNG EVACQDSSHP AKHRNTSAVL GCLAEKLAGP ASIGLLSPGI LEYLLQC
Highest antigen sequence identity to the following orthologs: Mouse - 99%, Rat - 99%.
靶标信息
The RSPRY1 gene encodes a protein containing both RING and SPRY domains, which are involved in various cellular processes, including signal transduction and protein-protein interactions. It is located on chromosome 16. Biallelic variants in RSPRY1 have been associated with spondyloepimetaphyseal dysplasia, a rare skeletal disorder characterized by short stature, facial dysmorphism, progressive vertebral defects, small epiphyses, cupping and fraying of metaphyses, brachydactyly, and short metatarsals. These phenotypic effects are due to mutations affecting the structure and function of the RSPRY1 protein, which plays a crucial role in skeletal development. The identification of specific missense variants, such as c.1652G>A (p.Cys551Tyr), has provided deeper insights into the molecular pathology of this condition.
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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生物信息学
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