추천 제품
생물학적 소스
goat
Quality Level
결합
unconjugated
항체 형태
affinity isolated antibody
항체 생산 유형
primary antibodies
클론
polyclonal
양식
buffered aqueous solution
종 반응성
mouse, human, rat
기술
immunohistochemistry: suitable
indirect ELISA: suitable
western blot: suitable
UniProt 수납 번호
배송 상태
dry ice
저장 온도
−20°C
타겟 번역 후 변형
unmodified
유전자 정보
human ... USH1C(10083)
일반 설명
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.
면역원
Peptide with sequence DRKVAREFRHKVD-C from the N Terminus of the protein sequence according to NP_005700.2; NP_710142.1.
생화학적/생리학적 작용
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.
특징 및 장점
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.
물리적 형태
Supplied at 0.5 mg/mL in Tris saline with 0.02% sodium azide and 0.5% bovine serum albumin.
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신호어
Warning
유해 및 위험 성명서
예방조치 성명서
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
가장 최신 버전 중 하나를 선택하세요:
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
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
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
USH1A: chronicle of a slow death.
Gerber, et al.
American Journal of Human Genetics, 78, 357-359 (2020)
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