Un-transfected cells were utilized in the Western Blot.
SAB2501088
Anti-USH1C/Harmonin antibody produced in goat
affinity isolated antibody, buffered aqueous solution
Synonym(s):
Anti-AIE-75, Anti-DFNB18, Anti-Harmonin, Anti-PDZ-45, Anti-PDZ-73
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100 μG
R$2,833.00
R$2,833.00
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100 μG
R$2,833.00
About This Item
UNSPSC Code:
12352203
NACRES:
NA.41
R$2,833.00
Check Cart for Availability
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biological source
goat
conjugate
unconjugated
antibody form
affinity isolated antibody
antibody product type
primary antibodies
clone
polyclonal
form
buffered aqueous solution
species reactivity
mouse, human, rat
technique(s)
immunohistochemistry: suitable
indirect ELISA: suitable
western blot: suitable
UniProt accession no.
shipped in
dry ice
storage temp.
−20°C
target post-translational modification
unmodified
Gene Information
human ... USH1C(10083)
General description
The Usher syndrome type 1C (USH1C) gene encodes for harmonin, a six PSD95/Dlg/Z-1 homology (PDZ) domain-containing protein. The USH1C gene is mapped on the human chromosome at 11p15.1.
Immunogen
Peptide with sequence DRKVAREFRHKVD-C from the N Terminus of the protein sequence according to NP_005700.2; NP_710142.1.
Biochem/physiol Actions
Harmonin acts as a scaffolding protein and interacts via its six PSD95/Dlg/Z-1 homology (PDZ)-domain with myosin VIIa, scaffold protein containing ankyrin repeats, and SAM domain (SANS), and cadherin 23. It plays a role in normal mechanosensory function in cochlear hair cells. Mutations in the USH1C gene are associated with non-syndromic recessive deafness, retinitis pigmentosa, and Usher syndrome type 1.
Features and Benefits
Evaluate our antibodies with complete peace of mind. If the antibody does not perform in your application, we will issue a full credit or replacement antibody. Learn more.
Physical form
Supplied at 0.5 mg/mL in Tris saline with 0.02% sodium azide and 0.5% bovine serum albumin.
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Signal Word
Warning
Hazard Statements
Precautionary Statements
Hazard Classifications
Eye Irrit. 2 - Skin Irrit. 2
Storage Class Code
10 - Combustible liquids
WGK
WGK 2
Flash Point(F)
Not applicable
Flash Point(C)
Not applicable
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Xiao Mei Ouyang et al.
Human genetics, 111(1), 26-30 (2002-07-24)
We have recently shown that USH1C underlies Usher syndrome type 1c (USH1C), an USH1 subtype characterized by profound deafness, retinitis pigmentosa, and vestibular dysfunction. USH1C encodes a PDZ-domain-containing protein, harmonin. Eight different Ush1c transcripts were identified in the mouse inner
Samer Khateb et al.
PloS one, 7(12), e51566-e51566 (2012-12-20)
We used a combined approach of homozygosity mapping and whole exome sequencing (WES) to search for the genetic cause of autosomal recessive retinitis pigmentosa (arRP) in families of Yemenite Jewish origin. Homozygosity mapping of two arRP Yemenite Jewish families revealed
Jan Reiners et al.
Molecular vision, 11, 347-355 (2005-06-02)
The human Usher syndrome (USH) is the most common form of deaf-blindness. Usher type I (USH1), the most severe form, is characterized by profound congenital deafness, constant vestibular dysfunction and prepubertal onset of retinitis pigmentosa. Five corresponding genes of the
USH1A: chronicle of a slow death.
Gerber, et al.
American Journal of Human Genetics, 78, 357-359 (2020)
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were the HEK293 cells in the western blot validating SAB2501088 transfected with a plasmid encoding Harmonin? or are untransfected cells being used?
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