Mouse Anti-CFAP410 Recombinant Antibody (1E4) (CBMAB-1241-CN)

Name: Mouse Anti-CFAP410 Recombinant Antibody (1E4)
SKU: CBMAB-1241-CN
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

1E4

Application

ELISA

Immunogen

C21orf2 (aa. 1-101) partial recombinant protein.

Host Species

Mouse

Specificity

Human

Antibody Isotype

IgG2a, κ

Clonality

Monoclonal Antibody

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format

Liquid

Buffer

PBS

Preservative

None

Concentration

Batch dependent

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

More Infomation

Target

Full Name

CILIA AND FLAGELLA ASSOCIATED PROTEIN 410

Introduction

Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This protein plays a role in cilia formation and/or maintenance (By similarity). This protein plays a role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987).

Entrez Gene ID

755

UniProt ID

O43822

Alternative Names

RDMS; SMDAX; LRRC76; YF5/A2

Function

Plays a role in cilia formation and/or maintenance (By similarity).
Plays a role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987).
Involved in DNA damage repair (PubMed:26290490).

Biological Process

Cilium assembly Source: GO_Central
Cytoskeleton organization Source: UniProtKB
DNA damage response, detection of DNA damage Source: UniProtKB
Regulation of cell shape Source: UniProtKB

Cellular Location

Cytoplasm; Cilium basal body; Mitochondrion; Photoreceptor outer segment. Colocalizes with NEK1 and SPATA7 at the basal body.

Involvement in disease

Retinal dystrophy with or without macular staphyloma (RDMS): An ocular disorder characterized by decreased vision which worsen over time, and dystrophic changes in the retina, such as retinal pigment epithelium mottling and vessel narrowing. Macular staphyloma, without high myopia, is present in some patients.
Spondylometaphyseal dysplasia, axial (SMDAX): A form of spondylometaphyseal dysplasia, a group of short stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. SMDAX is characterized by metaphyseal changes of truncal-juxtatruncal bones, including the proximal femora. Main clinical features are postnatal growth failure, rhizomelic short stature in early childhood evolving into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and function rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on fundoscopic examination and cone-rod dystrophy on electroretinogram. The radiological hallmarks include short ribs with flared, cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora.

Kurashige, T., Morino, H., Matsuda, Y., Mukai, T., Murao, T., Toko, M., ... & Kawakami, H. (2020). Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation. Journal of Neurology, Neurosurgery & Psychiatry, 91(2), 220-222.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme-Linked Immunospot (ELISpot)
Proteogenomics
Other Protocols

Isotype control

For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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