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SAB2501088

Anti-USH1C/Harmonin antibody produced in goat

Name: Anti-USH1C/Harmonin antibody produced in goat
Brand: SIGMA

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:

ELISA (i), IHC, WB

Citations:

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属性

biological source

goat

Quality Level

100

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.

Q9Y6N9

shipped in

dry ice

storage temp.

−20°C

target post-translational modification

unmodified

Gene Information

human ... USH1C(10083)

说明

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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存储类别

10 - Combustible liquids

flash_point_f

Not applicable

flash_point_c

Not applicable

法规信息

常规特殊物品

此项目有

历史批次信息供参考:

分析证书(COA)

Lot/Batch Number

6287P2

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Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C).

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

Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.

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

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.

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

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全球贸易项目编号

货号	GTIN
SAB2501088-100UG	04061831488296