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Abnova
KIAA1972 Polyclonal Antibody, MaxPab™
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产品信息
H00089970-B01P
产品规格
种属反应
Human
宿主/亚型
Mouse
/ IgG
分类
Polyclonal
类型
Antibody
抗原
KIAA1972 (NP_588609.1, 1 a.a. approximately 576 a.a) full-length human protein.
偶联物
形式
Liquid
浓度
0.5-1 mg/mL
纯化类型
Protein A
保存液
PBS, pH 7.4
内含物
no preservative
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
Product may be used with Western Blot (Transfected lysate).
The Isotype of this product is composed of an IgG Mixture.
Immunogen sequence: MIVFGWAVFL ASRSLGQGLL LTLEEHIAHF LGTGGAATTM GNSCICRDDS GTDDSVDTQQ QQAENSAVPT ADTRSQPRDP VRPPRRGRGP HEPRRKKQNV DGLVLDTLAV IRTLVDNDQE PPYSMITLHE MAETDEGWLD VVQSLIRVIP LEDPLGPAVI TLLLDECPLP TKDALQKLTE ILNLNGEVAC QDSSHPAKHR NTSAVLGCLA EKLAGPASIG LLSPGILEYL LQCLKLQSHP TVMLFALIAL EKFAQTSENK LTISESSISD RLVTLESWAN DPDYLKRQVG FCAQWSLDNL FLKEGRQLTY EKVNLSSIRA MLNSNDVSEY LKISPHGLEA RCDASSFESV RCTFCVDAGV WYYEVTVVTS GVMQIGWATR DSKFLNHEGY GIGDDEYSCA YDGCRQLIWY NARSKPHIHP CWKEGDTVGF LLDLNEKQMI FFLNGNQLPP EKQVFSSTVS GFFAAASFMS YQQCEFNFGA KPFKYPPSMK FSTFNDYAFL TAEEKIILPR HRRLALLKQV SIRENCCSLC CDEVADTQLK PCGHSDLCMD CALQLETCPL CRKEIVSRIR QISHIS
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
蛋白别名: RING finger and SPRY domain-containing protein 1
基因别名: KIAA1972; RSPRY1; SEMDFA; UNQ328/PRO444
UniProt ID: (Human) Q96DX4
Entrez Gene ID: (Human) 89970
