Microcephalin Polyclonal Antibody, 100ul Mammalian Expression Mutations in this gene result

Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome

these fusions actually involve a ribosomal protein L22 pseudogene located at 3q26

Ran is active in its GTP-bound form and inactive in its GDP-bound form

or GRIN2D) and NR3 (GRIN3A or GRIN3B)

Microcephalin Polyclonal Antibody, 100ul Mammalian Expression Mutations in this gene resultThis gene encodes a DNA damage response protein. The encoded protein may play a role in G2 M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described.