生物来源
goat
质量水平
偶联物
unconjugated
抗体形式
affinity isolated antibody
抗体产品类型
primary antibodies
克隆
polyclonal
形式
buffered aqueous solution
种属反应性
mouse, human, rat
技术
immunohistochemistry: suitable
indirect ELISA: suitable
western blot: suitable
UniProt登记号
运输
dry ice
储存温度
−20°C
靶向翻译后修饰
unmodified
基因信息
human ... USH1C(10083)
一般描述
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.
免疫原
Peptide with sequence DRKVAREFRHKVD-C from the N Terminus of the protein sequence according to NP_005700.2; NP_710142.1.
生化/生理作用
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.
特点和优势
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外形
Supplied at 0.5 mg/mL in Tris saline with 0.02% sodium azide and 0.5% bovine serum albumin.
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警示用语：
Warning
危险声明
预防措施声明
危险分类
Eye Irrit. 2 - Skin Irrit. 2
WGK
WGK 2
闪点(°F)
Not applicable
闪点(°C)
Not applicable
法规信息
新产品
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
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
USH1A: chronicle of a slow death.
Gerber, et al.
American Journal of Human Genetics, 78, 357-359 (2020)
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