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Mouse Anti-IFT74 Recombinant Antibody (2B6) (CBMAB-A4293-LY)

The product is antibody recognizes IFT74. The antibody 2B6 immunoassay techniques such as: WB, ELISA.
See all IFT74 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
2B6
Antibody Isotype
IgG1, κ
Application
WB, ELISA

Basic Information

Immunogen
IFT74 (NP_079379, 1 a.a. ~ 100 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Specificity
Human
Antibody Isotype
IgG1, κ
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
Purity
> 95% Purity determined by SDS-PAGE.
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
intraflagellar transport 74 homolog (Chlamydomonas)
Entrez Gene ID
80173
UniProt ID
Q96LB3
Alternative Names
CCDC2; CMG-1; CMG1; FLJ22621; MGC111562
Function
Component of the intraflagellar transport (IFT) complex B: together with IFT81, forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium. Binds beta-tubulin via its basic region. Required for ciliogenesis.
Biological Process
Cilium assembly Source: UniProtKB
Determination of left/right symmetry Source: Ensembl
Heart development Source: Ensembl
Intraciliary transport involved in cilium assembly Source: UniProtKB
Keratinocyte development Source: Ensembl
Negative regulation of epithelial cell proliferation Source: Ensembl
Non-motile cilium assembly Source: Ensembl
Notch signaling pathway Source: Ensembl
Positive regulation of cell adhesion mediated by integrin Source: Ensembl
Positive regulation of transcription by RNA polymerase II Source: Ensembl
Cellular Location
Cilium; Cytoplasmic vesicle. Localizes along primary cilia at interphase and around the basal body/centriole at interphase and mitosis.
Involvement in disease
Bardet-Biedl syndrome 20 (BBS20):
A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

Bakey, Z., Cabrera, O. A., Hoefele, J., Antony, D., Wu, K., Stuck, M. W., ... & Pazour, G. J. (2023). IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans. PLoS Genetics, 19(6), e1010796.

Fassad, M. R., Rumman, N., Junger, K., Patel, M. P., Thompson, J., Goggin, P., ... & Mitchison, H. M. (2023). Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations. Human Molecular Genetics, ddad132.

Boegholm, N., Petriman, N. A., Loureiro‐López, M., Wang, J., Vela, M. I. S., Liu, B., ... & Lorentzen, E. (2023). The IFT81‐IFT74 complex acts as an unconventional RabL2 GTPase‐activating protein during intraflagellar transport. The EMBO Journal, e111807.

Zhou, Z., Qiu, H., Castro-Araya, R. F., Takei, R., Nakayama, K., & Katoh, Y. (2022). Impaired cooperation between IFT74/BBS22–IFT81 and IFT25–IFT27/BBS19 causes Bardet-Biedl syndrome. Human Molecular Genetics, 31(10), 1681-1693.

Mardy, A. H., Hodoglugil, U., Yip, T., & Slavotinek, A. M. (2021). Third case of Bardet‐Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74. Clinical Genetics, 100(1), 93-99.

Luo, M., Lin, Z., Zhu, T., Jin, M., Meng, D., He, R., ... & Cao, M. (2021). Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome. Genetics in Medicine, 23(6), 1041-1049.

Lorès, P., Kherraf, Z. E., Amiri-Yekta, A., Whitfield, M., Daneshipour, A., Stouvenel, L., ... & Touré, A. (2021). A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome. Human Genetics, 140, 1031-1043.

Zhongling, K., Guoming, L., Yanhui, C., & Xiaoru, C. (2021). Case report: Second report of Joubert syndrome caused by Biallelic variants in IFT74. Frontiers in Genetics, 12, 738157.

Zhu, P., Xu, J., Wang, Y., & Zhao, C. (2021). Loss of Ift74 leads to Slow photoreceptor degeneration and ciliogenesis defects in zebrafish. International Journal of Molecular Sciences, 22(17), 9329.

Kleinendorst, L., Alsters, S. I., Abawi, O., Waisfisz, Q., Boon, E. M., van den Akker, E. L., & van Haelst, M. M. (2020). Second case of Bardet–Biedl syndrome caused by biallelic variants in IFT74. European Journal of Human Genetics, 28(7), 943-946.

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

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