Anti-ADNP (C-Terminal) Polyclonal Antibody (CPBT- 66599RH) This Product Is for Research Use Only and Is Not Intended for Diagnostic Use

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Anti-ADNP (C-terminal) polyclonal antibody (CPBT- 66599RH) This product is for research use only and is not intended for diagnostic use. PRODUCT INFORMATION Product Overview This product is specific for human Activity dependent neuroprotective protein (ADNP). ADNP is a glial-derived protein that contains an octopeptide active neuroprotective peptide, NAPVSIPQ (NAP) which potently enhances the survival of neurons. The activity of ADNP is regulated by vasoactive intestinal peptide (VIP). ADNP is localized to the nucleus and contains several DNA binding motifs, which would suggest that it may act as transcription factor. Specificity ADNP Immunogen Synthetic peptide corresponding to a region within the C-terminus of human ADNP. Isotype IgG Source/Host Rabbit Species Reactivity Human Conjugate Unconjugated Applications WB Format Purified IgG - liquid Size 50 μg Preservative 0.09% Sodium Azide Storage in frost free freezers is not recommended. Avoid repeated freezing and thawing as this may denature the antibody. Should this product contain a precipitate we recommend microcentrifugation before use. Warnings For research purposes only GENE INFORMATION Gene Name ADNP activity-dependent neuroprotector homeobox [ Homo sapiens (human) ] Official Symbol ADNP 45-1 Ramsey Road, Shirley, NY 11967, USA Email: [email protected] Tel: 1-631-624-4882 Fax: 1-631-938-8221 1 © Creative Diagnostics All Rights Reserved Synonyms ADNP; activity-dependent neuroprotector homeobox; ADNP1; MRD28; activity-dependent neuroprotector homeobox protein; ADNP homeobox 1; activity-dependent neuroprotective protein; Entrez Gene ID 23394 Protein Refseq NP_001269460 UniProt ID Q9H2P0 Chromosome Location 20q13.13 Function DNA binding; chromatin binding; metal ion binding; protein binding; 45-1 Ramsey Road, Shirley, NY 11967, USA Email: [email protected] Tel: 1-631-624-4882 Fax: 1-631-938-8221 2 © Creative Diagnostics All Rights Reserved.

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A Heterozygous Microdeletion of 20Q13.13 Encompassing ADNP Gene in a Child with Helsmoortel–Van Der Aa Syndrome
European Journal of Human Genetics (2018) 26:1497–1501 https://doi.org/10.1038/s41431-018-0165-8 ARTICLE A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel–van der Aa syndrome 1,2 1 3 1 4 Minh-Tuan Huynh ● Elise Boudry-Labis ● Alfred Massard ● Caroline Thuillier ● Bruno Delobel ● 4 5 Bénédicte Duban-Bedu ● Catherine Vincent-Delorme Received: 8 September 2017 / Revised: 3 April 2018 / Accepted: 11 April 2018 / Published online: 13 June 2018 © European Society of Human Genetics 2018 Abstract Helsmoortel–van der Aa (SWI/SNF autism-related or ADNP syndrome) is an autosomal dominant monogenic syndrome caused by de novo variants in the last exon of ADNP gene and no deletions have been documented to date. We report the first case of a 3 years and 10 months old boy exhibiting typical features of ADNP syndrome, including intellectual disability, autistic traits, facial dysmorphism, hyperlaxity, mood disorder, behavioral problems, and severe chronic constipation. 60K Agilent array-comparative genomic hybridization (CGH) identified a heterozygous interstitial microdeletion at 20q13.13 chromosome region, encompassing ADNP and DPM1. Taking into account the clinical phenotype of previously reported cases with ADNP single-point variants, – – 1234567890();,: 1234567890();,: genotype phenotype correlation in the proband was established and the diagnosis of Helsmoortel van der Aa syndrome was made. Our report thus confirms that ADNP haploinsufficiency is associated with Helsmoortel–van der Aa syndrome as well as highlights the utility of whole-genome array-CGH for detection of unbalanced submicroscopic chromosomal rearrangements in routine clinical setting in patients with unexplained intellectual disability and/or syndromic autism.
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A Dose Dependent Fashion
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