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

This protein may also be involved in regulating genes that function in metabolic| inflammatory and cardiovascular processes

Isoform 2 is the predominant form

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

This member is identified as a 'silent subunit'

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.