Search Thermo Fisher Scientific
Disclaimer
Clicking the images or links will redirect you to a website hosted by BenchSci that provides third-party scientific content. Neither the content nor the BenchSci technology and processes for selection have been evaluated by us; we are providing them as-is and without warranty of any kind, including for use or application of the Thermo Fisher Scientific products presented.
Product Details
H00089970-B01P
Product Specifications
Species Reactivity
Human
Host/Isotype
Mouse
/ IgG
Class
Polyclonal
Type
Antibody
Immunogen
KIAA1972 (NP_588609.1, 1 a.a. approximately 576 a.a) full-length human protein.
Conjugate
Form
Liquid
Concentration
0.5-1 mg/mL
Purification
Protein A
Storage buffer
PBS, pH 7.4
Contains
no preservative
Storage conditions
-20°C, Avoid Freeze/Thaw Cycles
Shipping conditions
Wet ice
Product Specific Information
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
Target Information
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
References (0)
Have you cited this product in a publication?
Let us know so we can reference it here.
Bioinformatics
Protein Aliases: RING finger and SPRY domain-containing protein 1
Gene Aliases: KIAA1972; RSPRY1; SEMDFA; UNQ328/PRO444
UniProt ID: (Human) Q96DX4
Entrez Gene ID: (Human) 89970
Performance Guarantee
If an Invitrogen™ antibody doesn't perform as described on our website or datasheet,we'll replace the product at no cost to you, or provide you with a credit for a future purchase.*
Learn more
We're here to help
Get expert recommendations for common problems or connect directly with an on staff expert for technical assistance related to applications, equipment and general product use.
Contact tech support