SAB2501088
Anti-USH1C/Harmonin antibody produced in goat
affinity isolated antibody, buffered aqueous solution
别名:
Anti-AIE-75, Anti-DFNB18, Anti-Harmonin, Anti-PDZ-45, Anti-PDZ-73
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关于此项目
NACRES:
NA.41
UNSPSC Code:
12352203
Conjugate:
unconjugated
Clone:
polyclonal
Application:
immunohistochemistry
indirect ELISA
western blot
indirect ELISA
western blot
Species reactivity:
mouse, human, rat
Citations:
4
Technique(s):
immunohistochemistry: suitable
indirect ELISA: suitable
western blot: suitable
indirect ELISA: suitable
western blot: suitable
Uniprot accession no.:
产品名称
Anti-USH1C/Harmonin antibody produced in goat, affinity isolated antibody, buffered aqueous solution
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
Quality Level
Gene Information
human ... USH1C(10083)
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
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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.
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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Warning
hcodes
pcodes
Hazard Classifications
Eye Irrit. 2 - Skin Irrit. 2
存储类别
10 - Combustible liquids
wgk
WGK 2
flash_point_f
Not applicable
flash_point_c
Not applicable
法规信息
常规特殊物品
此项目有
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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