The robust changes in gene expression linked to nervous tissue and organ development place activity-dependent neuroprotector homeobox protein (ADNP) as a highly conserved master gene regulator of human development. ADNP de novo mutations in humans result in a syndromic form of autism-like spectrum disorder (ASD), including cognitive and motor deficits, the ADNP syndrome. Creative Biolabs provides comprehensive ADNP analysis services to support your research. We can use transcriptomic, proteomic, and in situ analyses to identify ADNP expression and cell biology approaches to determine its function.
ADNP, a highly conserved, vertebrate-specific protein, is essential for brain formation and function. ADNP is a ~ 124 kDa protein encoded by the human ADNP gene on chromosome 20q12-13.2. ADNP is critical for brain formation, organ development, cognition, and motor function. In the cytoplasm, ADNP has been shown to correlate with the microtubule (MT)-associated protein Tau, leading to dynamic Tau expression and protection against Tau pathology. In the nucleus, ADNP is a member of a chromatin remodeling complex that is responsible for RNA transcription and splicing.
More importantly, ADNP is one of a group of de novo mutated genes including CHD8, SYNGAP1, TBR1, and SHANK3 that lead to autism in a substantial proportion of cases. Studies reported that silencing ADNP expression increased migration, invasion, and proliferation of colon cancer cells and accelerated tumor growth in xenografts in vivo.
Fig.1 Diagrammatic overview of mutations spanning the ADNP protein.1
Diagnosis is usually performed by identifying a heterozygous ADNP mutation through molecular genetic testing using whole-exome sequencing. Other testing approaches include single-gene testing and multigene panels. A de novo mutation represents a spontaneous pathogenic sequence variant within the DNA. Besides, serum ADNP protein levels could be analyzed by ELISA. Higher ADNP serum protein levels are significantly associated with higher premorbid intelligence, while lower ADNP mRNA levels associated with higher cortical amyloid burden in cognitively normal elderly.
Numerous findings indicate that ADNP is a tumor suppressor and a promising prognostic marker. To deeply explore the direct effects of distinct human ADNP mutations on microtubule function, Creative Biolabs provides ADNP mutants construction services and test services for clients. Further comparison of different ADNP mutants in vivo in mouse models is available.
Armed with rich experience in antibody development, Creative Biolabs has developed anti-ADNP antibodies mapped to the different fragments of human ADNP. Our antibodies are validated with different applications such as WB, ICC, IF, IP. Other services include but are not limited to the following:
If you are interested in our services, please contact us for more information.
Reference
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