Mouse Anti-CEP104 Recombinant Antibody (CBLC151-LY) (CBMAB-C10905-LY)

The product is antibody recognizes CEP104. The antibody CBLC151-LY immunoassay techniques such as: WB, IP, IF, ELISA.
See all CEP104 antibodies

Datasheet

Summary

Host Animal

Mouse

Specificity

Mouse, Rat, Human

Clone

CBLC151-LY

Antibody Isotype

IgG

Application

WB, IP, IF, ELISA

Basic Information

Specificity

Mouse, Rat, Human

Antibody Isotype

IgG

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

Storage

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

Target

Full Name

Centrosomal Protein 104

Introduction

This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]

Entrez Gene ID

Human	9731
Mouse	230967
Rat	246295

UniProt ID

Human	O60308
Mouse	Q80V31
Rat	D3Z8X7

Function

Required for ciliogenesis and for structural integrity at the ciliary tip.

Cellular Location

Centriole; Centrosome; Spindle pole; Cilium. In interphase non-ciliated cells, localizes to the distal ends of both the mother and daughter centrioles. In ciliated cells, present at the distal end of the daughter centriole, but not on the mother centriole, and at the tip of primary cilium. Localization at the ciliary tip is also observed in motile cilia. Throughout S phase, associated with both mother and daughter centrioles in each centrosome. During metaphase and telophase, present at both spindle poles.

Involvement in disease

Joubert syndrome 25 (JBTS25): A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS25 clinical manifestations appear to be confined to the neurologic system. JBTS25 inheritance is autosomal recessive.

References

Yamazoe, T., Nagai, T., Umeda, S., Sugaya, Y., & Mizuno, K. (2020). Roles of TOG and jelly-roll domains of centrosomal protein CEP104 in its functions in cilium elongation and Hedgehog signaling. Journal of Biological Chemistry, 295(43), 14723-14736.

Luo, M., Cao, L., Cao, Z., Ma, S., Shen, Y., Yang, D., ... & Ma, X. (2019). Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome. Molecular genetics & genomic medicine, 7(12), e1004.

Frikstad, K. A. M., Molinari, E., Thoresen, M., Ramsbottom, S. A., Hughes, F., Letteboer, S. J., ... & Patzke, S. (2019). A CEP104-CSPP1 complex is required for formation of primary cilia competent in hedgehog signaling. Cell reports, 28(7), 1907-1922.

Al-Jassar, C., Andreeva, A., Barnabas, D. D., McLaughlin, S. H., Johnson, C. M., Yu, M., & van Breugel, M. (2017). The ciliopathy-associated Cep104 protein interacts with tubulin and Nek1 kinase. Structure, 25(1), 146-156.

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Protocols

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)
Proteogenomic
Other Protocols

Associated Products

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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