Rabbit Anti-CLRN1 Polyclonal antibody (CPBT-52079RH)

Rabbit Anti-Human CLRN1 Polyclonal antibody for WB, IHC, ELISA Datasheet

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Specifications


Host Species
Rabbit
Antibody Isotype
IgG
Species Reactivity
Human, Mouse
Immunogen
CLRN1 fusion protein, sequence: ASEVKIHHLSEKIANYKEGTYVYKTQSEKYTTSFWVIFFCFFVHFLNGLLIRLAGFQFPFAKSKDAETTNVAADLMY (156-232 aa encoded by BC074970)
Conjugate
Unconjugated

Applications


Application Notes
WB: 1:500-1:2000
IHC: 1:50-1:500
*Suggested working dilutions are given as a guide only. It is recommended that the user titrates the product for use in their own experiment using appropriate negative and positive controls.

Target


Alternative Names
CLRN1; clarin 1; RP61; USH3; USH3A; clarin-1
Entrez Gene ID
UniProt ID

Product Background


Gene summary
CLRN1 (Clarin 1) is a Protein Coding gene. Diseases associated with CLRN1 include usher syndrome, type 3a and retinitis pigmentosa 61. An important paralog of this gene is CLRN2. This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene.
Antigen Description
This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Retinitis pigmentosa 61 (RP61) [MIM:614180]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations affecting the gene represented in this entry. Usher syndrome 3A (USH3A) [MIM:276902]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life. Clarin-1 is a protein that in humans is encoded by the CLRN1 gene.

Citations


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References


Zallocchi, M; Meehan, DT; et al. Localization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptors. HEARING RESEARCH 255:109-120(2009).

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