CEP104 Antibody

Introduction to CEP104 Antibody

CEP104 antibodies are specialized immunological tools designed to detect the centrosomal protein CEP104 (centrosomal protein 104 kDa), a critical regulator of ciliogenesis and ciliary tip structural integrity . These antibodies enable researchers to study CEP104’s role in cellular signaling, development, and diseases such as Joubert syndrome and ciliopathies . With isoforms ranging from 925 amino acids (~104.4 kDa) and subcellular localization in cytoplasm and cell projections, CEP104’s detection relies on epitope-specific antibodies targeting N-terminal or C-terminal regions .

Applications in Research

CEP104 antibodies are employed across diverse experimental methodologies:

Antibody Specificity and Epitope Targeting

• N-terminal antibodies (e.g., Santa Cruz C-10): Detect full-length and truncated CEP104 variants, essential for diagnosing mutations in ciliopathy patients .

• C-terminal antibodies: Fail to detect truncated CEP104 in Joubert syndrome patients, highlighting epitope-dependent sensitivity .

• Cross-reactivity: Broad reactivity across human, mouse, rat, bovine, zebrafish, and other species .

Role in Ciliogenesis

• Cilium Length Regulation: CEP104 depletion via siRNA shortens cilia in RPE1 cells, while WT rescue restores normal length .

• CP110 Interaction: CEP104 binds CP110 but does not influence its removal from mother centrioles during serum starvation .

• CSPP1 Partnership: CEP104-CSPP1 complexes are essential for forming Hedgehog-competent cilia, as shown in yeast two-hybrid and co-IP assays .

Disease Association

• Joubert Syndrome: Truncating CEP104 mutations reduce mRNA/protein levels, detectable via N-terminal antibodies in patient-derived lymphoblastoid cells .

• Ciliopathies: Dysregulated CEP104 disrupts ciliary tip integrity, linking to neurodevelopmental and retinal disorders .

Diagnostic Utility

• Western Blot: Detects truncated CEP104 in Joubert syndrome patients, aiding genetic counseling .

• Immunofluorescence: Identifies ciliary structural defects in patient-derived cells, correlating with clinical phenotypes .

Therapeutic Potential

• Research Models: CEP104 antibodies enable monitoring of therapeutic interventions targeting ciliogenesis in preclinical studies .