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NPAP1 is located in the Prader#Willi syndrome region on chromosome 15. Additionally we are shipping and many more products for this protein.
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Human Polyclonal NPAP1 Primary Antibody for FACS, IHC (p) - ABIN6244208
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 2013
NPAP1 is specific to primate species and absent from the 15q11q13-orthologous regions in all nonprimate mammals.
C15orf2 is part of the nuclear pore complex or its associated molecular networks.
C15orf2 gene is imprinted, with monoallelic expression from the paternal allele in fetal brain.
These results indicate that C15orf2 might have an important role in human biology and that a deficiency of C15orf2 might contribute to Prader-Willi syndrome.
The results from this study show an involvement of microdeletions at 15q11.2 that predispose patients to idiopathic generalized epilepsies.
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.
nuclear pore-associated protein 1
, protein C15orf2