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

It is a ligand for the NKG2-D type II integral membrane protein receptor

or GRIN2D) and NR3 (GRIN3A or GRIN3B)

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

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.