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C5ORF42 Rabbit pAb

C5ORF42 Rabbit pAb

     
  • 1 - C5ORF42 Rabbit pAb AP94482
    Blank control: Hela(blue), the cells were fixed with 2% paraformaldehyde (10 min) and then permeabilized with ice-cold 90% methanol for 30 min on ice. Isotype Control Antibody: Rabbit IgG(orange) ; Secondary Antibody: Goat anti-rabbit IgG-PE(white blue), Dilution: 1:200 in 1 X PBS containing 0.5% BSA ; Primary Antibody Dilution: 1 µg in 100 µL1X PBS containing 0.5% BSA(green).
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Product Information
Primary Accession Q9H799
Reactivity Human
Host Rabbit
Clonality Polyclonal
Calculated MW 361746 Da
Physical State Liquid
Immunogen KLH conjugated synthetic peptide derived from human C5ORF42
Epitope Specificity 1-100/3197
Isotype IgG
Purity affinity purified by Protein A
Buffer 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
SUBCELLULAR LOCATION Membrane; Multi-pass membrane protein (Potential).
DISEASE Defects in C5orf42 are the cause of Joubert syndrome type 17 (JBTS17) [MIM:614615]. 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 and renal disease.
Important Note This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
Additional Information
Gene ID 65250
Other Names Ciliogenesis and planar polarity effector 1, Protein JBTS17, CPLANE1 (HGNC:25801)
Dilution Flow-Cyt=1 µg/Test
Format0.01M TBS(pH7.4) with 1% BSA, 0.09% (W/V) sodium azide and 50% Glyce
StorageStore at -20 °C for one year. Avoid repeated freeze/thaw cycles. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
Protein Information
Name CPLANE1 (HGNC:25801)
Function Involved in ciliogenesis (PubMed:25877302, PubMed:35582950). Involved in the establishment of cell polarity required for directional cell migration. Proposed to act in association with the CPLANE (ciliogenesis and planar polarity effectors) complex. Involved in recruitment of peripheral IFT-A proteins to basal bodies (By similarity).
Cellular Location Membrane; Multi-pass membrane protein. Cell projection, cilium {ECO:0000250|UniProtKB:Q8CE72}. Note=Localizes to the ciliary transition zone. {ECO:0000250|UniProtKB:Q8CE72}
Research Areas

For Research Use Only. Not For Use In Diagnostic Procedures.

BACKGROUND

This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

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