MAN1 Rabbit Polyclonal Antibody, 100ul Site-directed Mutagenesis this loss is due to

this loss is due to inactivity of the maternal 15q11-q13 encoded UBE3A gene in the brain by either chromosomal deletion or mutation

NBEAL2 is thought to play a role in α-granule biogenesis in megakaryocytes and is encoded by a gene that maps to human chromosome 3p21

GTF2H2 is part of a 500 kb inverted duplication on chromosome 5q13

It is regulated by a family of G protein-coupled receptors

MAN1 Rabbit Polyclonal Antibody, 100ul Site-directed Mutagenesis this loss is due toThis locus encodes a LEM domain containing protein. The encoded protein functions to antagonize transforming growth factor beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis Buschke Ollendorff syndrome and melorheostosis.