Primary Identifier | IPR029664 | Type | Family |
Short Name | NIN |
description | Ninein is a centrosomal protein required in positioning and anchoring the microtubule minus-end in epithelial cells []. In human apical progenitor cells, it plays an essential role in cell cycle-dependent nuclear movement (interkinetic nuclear migration) by connecting microtubules to the centrosome [].Mutations in ninein gene causes Seckel syndrome 7 (SCKL7), which is a rare autosomal recessive disorder characterised by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation []. |