This gene is located in the Prader#Willi syndrome region on chromosome 15. This gene is biallelically expressed in adult testis and brain but is paternally imprinted in fetal brain. Defects in this gene may be associated with Prader#Willi syndrome.
Neumann, Markaki, Mladenov, Hoffmann, Buiting, Horsthemke: "The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein." in: Human molecular genetics, Vol. 21, Issue 18, pp. 4038-48, (2013) (PubMed).
Aliases for NPAP1 抗体
nuclear pore associated protein 1 (NPAP1) 抗体 C15orf2 抗体