Predicted to enable DNA binding activity. Acts upstream of or within several processes, including cilium assembly; epithelial tube morphogenesis; and negative regulation of keratinocyte proliferation. Located in several cellular components, including cytoskeleton; dendrite terminus; and photoreceptor connecting cilium. Part of intraciliary transport particle B. Is expressed in several structures, including central nervous system; embryo ectoderm; embryo mesoderm; limb bud; and node. Human ortholog(s) of this gene implicated in orofaciodigital syndrome XVIII. Orthologous to human IFT57 (intraflagellar transport 57).
MGI Description
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis, abnormal left-right axis patterning, absence of embryonic cilia. random and delayed embryo turning, and abnormal neural tube development and morphology. [provided by MGI curators]