epitope mapping within an internal region of NIPA2 of human origin
recommended for detection of NIPA2 of mouse, rat and human origin by WB, IF and ELISA; also reactive with additional species, including equine, canine and bovine
NIPA2 Background Information NIPA2 (non imprinted in Prader-Willi/Angelman syndrome 2) is a 360 amino acid multi-pass membrane protein that is widely expressed and may be involved in the pathogenesis of Prader-Willi syndrome. The gene encoding NIPA2 maps to human chromosome 15, which encodes over 700 genes and comprises nearly 3% of the human genome.Angelman and Prader-Willi syndromes are associated with loss of function or deletion of genes in the 15q11-q13 region. In the case of Angelman syndrome, this loss is due to inactivity of the maternal 15q11-q13 encoded UBE3A gene in the brain by either chromosomal deletion or mutation. In cases of Prader-Willi syndrome, there is a partial or complete deletion of this region from the paternal copy of chromosome 15. Tay-Sachs disease is a lethal disorder associated with mutations of the HEXA gene, which is encoded by chromosome 15. Marfan syndrome is associated with chromosome 15 through the FBN1 gene.
