NIPA2 Antibody (C-term)
- Known as:
- NIPA2 Antibody (C-terminus)
- Catalog number:
- AP9204b
- Category:
- -
- Supplier:
- Abgen
- Gene target:
- NIPA2 Antibody (C-term)
Related genes to: NIPA2 Antibody (C-term)
- Gene:
- NIPA2 NIH gene
- Name:
- NIPA magnesium transporter 2
- Previous symbol:
- -
- Synonyms:
- SLC57A2
- Chromosome:
- 15q11.2
- Locus Type:
- gene with protein product
- Date approved:
- 2004-09-30
- Date modifiied:
- 2018-02-23
Related products to: NIPA2 Antibody (C-term)
Related articles to: NIPA2 Antibody (C-term)
- The Non-Imprinted in Prader-Willi/Angelman syndrome 2 (NIPA2) is a highly conserved member of the Drug/Metabolite Transporter (DMT) family, originally characterized as a Mg transporter. Dysfunction of NIPA2 has been linked to epilepsy and seizures but despite this the molecular mechanisms of transport and substrate recognition, as well as the functional and structural effects of patient mutations. To answer these questions and gain a fundamental understanding of NIPA2, we performed cryo-EM, and liposomal and cell-based assays. Here we show that NIPA2 passively transports both Mg and nucleotides, revealing a broader substrate profile than previously appreciated with potential physiological implications. Furthermore, we establish that NIPA2 utilizes an alternating-access mechanism that appears distinct from classical elevator and rocker switch models. Finally, we show that mutation A75T, linked to childhood absence epilepsy, results in loss of function. Our data provides a framework for understanding the physiological role of NIPA2 and related proteins. - Source: PubMed
Publication date: 2026/07/21
Karuppan Sebastian JConnolly NikolasShrestha SimranMedearis MatthewGholampour MaryamZubcevic Lejla - Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders that include deficits in social communication, maintaining relationships, and repetitive behaviors. In 25-35% of ASD cases, the genetic etiology (high-penetrance variants and copy number variations - CNVs) can be identified through whole-exome sequencing or chromosomal microarray analysis (CMA). CMA is a method dedicated to detecting submicroscopic chromosomal imbalances. The study aims to analyze CMA results in children with ASD. - Source: PubMed
Publication date: 2026/06/12
Ręka GabrielaWojciechowska KatarzynaStyka BorysJaniszewska MariolaLejman Monika - The 15q11.2 BP1-BP2 microduplication is a rare copy number variant associated with neurodevelopmental disorders, dysmorphic features, and variable expressivity. Unlike complete trisomy 15, this microduplication involves a 300 kb segment containing four genes: NIPA1, NIPA2, CYFIP1, and TUBGCP5. Few cases have been reported in sub-Saharan Africa. - Source: PubMed
Publication date: 2026/06/04
Betoko Ritha MbonoDahoun SophieNtsoli GaelleSloan-Bena FrederiqueBodieu Adele ChetchaNengom Jocelyn TonySap Suzanne - Chromosome region 15q11-q13 is prone to structural rearrangements and contains imprinted genes associated with several neurodevelopmental syndromes. In this report, we present the case of a 518 kb duplication in 15q11.2, identified prenatally through array comparative genomic hybridization. Parental testing revealed that the duplication was paternally inherited and originated from the asymptomatic paternal grandmother. The duplicated region harbored the OMIM genes , , , and , all of which presented biallelic expression and were not subjected to genomic imprinting. Given the benign familial inheritance and lack of clinical features in the father and the paternal grandmother, the duplication was considered likely to have benign significance. A healthy female newborn was delivered at term. - Source: PubMed
Publication date: 2026/02/20
Spathi Andreas ELagios StylianosPapanikolaou VassilisKostoulas CharilaosSesse AthanasiaTheochari EleniLeoutsakou TheoniPsarris AlexandrosKavvadia MariaStauroulaki TheanoDestouni AspasiaGeorgiou IoannisPampanos Andreas - Bainbridge-Ropers syndrome (BRPS, OMIM #615485) and the 15q11.2 BP1-BP2 microdeletion syndrome (OMIM #615656) are distinct genetic aetiologies of neurodevelopmental disorder Dual diagnosis of both entities in a single patient is extremely rare, and the underlying synergistic pathogenesis remains poorly understood. - Source: PubMed
Publication date: 2025/12/11
Yang MingkaiXiao YanfangChen ChanjuanChu ZhouHu Guohong