Primary Identifier | MGI:2139083 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 99100 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable protein kinase binding activity. Involved in centriole replication and de novo centriole assembly involved in multi-ciliated epithelial cell differentiation. Located in centrosome and deuterosome. Is expressed in several structures, including brain; lung; pharynx epithelium; sensory organ; and skeleton. Human ortholog(s) of this gene implicated in Seckel syndrome 5 and primary autosomal recessive microcephaly 9. Orthologous to human CEP152 (centrosomal protein 152). PHENOTYPE: Embryos homozygous for a null allele exhibit reduced numbers of centrosomes and cilia, increased apoptosis, and midgestation lethality. [provided by MGI curators] |