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- Antibody Data
- Antigen structure
- References [1]
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- Product number
- PA5-70305 - Provider product page
- Provider
- Invitrogen Antibodies
- Product name
- SASH3 Polyclonal Antibody
- Antibody type
- Polyclonal
- Antigen
- Synthetic peptide
- Description
- This target displays homology in the following species: Cow: 93%; Dog: 100%; Guinea Pig: 100%; Horse: 100%; Human: 100%; Mouse: 100%; Rabbit: 100%; Rat: 100%
- Reactivity
- Human
- Host
- Rabbit
- Isotype
- IgG
- Vial size
- 100 μL
- Concentration
- 0.5 mg/mL
- Storage
- -20°C, Avoid Freeze/Thaw Cycles
Submitted references Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency.
Labrador-Horrillo M, Franco-Jarava C, Garcia-Prat M, Parra-Martínez A, Antolín M, Salgado-Perandrés S, Aguiló-Cucurull A, Martinez-Gallo M, Colobran R
Frontiers in immunology 2022;13:881206
Frontiers in immunology 2022;13:881206
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Supportive validation
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- Invitrogen Antibodies (provider)
- Main image
- Experimental details
- Novel loss-of-function variant causing SASH3 deficiency. (A) Schematic structure of SASH3 protein. The location of the c.505C>T/p.Gln169* variant is indicated below in red and Sanger sequencing confirmation is shown. The three other variants reported by Delmonte et al. are indicated in gray in the upper part. (B) Pedigree and familial segregation of the SASH3 variant. The patient was hemizygous and his mother, a heterozygous carrier. (C) Western blot showing absence of SASH3 protein in patient PBMCs. The immunogen recognized by the antibody used (SASH3 polyclonal antibody #PA5-70305, Termofisher Scientific) is located at the N-terminal region of human SASH3 protein, before the amino acid 169 (where the STOP codon is located).
