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

This product is a mouse antibody that recognizes C21orf2 of human. The antibody 1E4 can be used for immunoassay techniques such as: ELISA.
See all CFAP410 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
1E4
Antibody Isotype
IgG2a
Application
ELISA

Basic Information

Immunogen
C21orf2 (NP_004919, aa. 1-101) partial recombinant protein with GST tag.
Specificity
Human
Antibody Isotype
IgG2a
Clonality
Monoclonal
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
1x PBS,  pH 7.4
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

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.
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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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