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Merck
CN

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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About This Item

NACRES:
NA.41
UNSPSC Code:
12352203
Conjugate:
unconjugated
Clone:
polyclonal
Application:
ELISA (i), IHC, WB
Citations:
4

Key Documents

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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.

Q9Y6N9

shipped in

dry ice

storage temp.

−20°C

target post-translational modification

unmodified

Quality Level

100

Gene Information

human ... USH1C(10083)

Related Categories

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

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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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pictograms

Exclamation mark
GHS07

signalword

Warning

hcodes

H315,H319

Hazard Classifications

Eye Irrit. 2 - Skin Irrit. 2

Storage Class

10 - Combustible liquids

wgk

WGK 2

flash_point_f

Not applicable

flash_point_c

Not applicable

Regulatory Information

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Certificates of Analysis (COA)

Lot/Batch Number
6287P2

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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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