Primary Identifier | MGI:107629 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 269593 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables microtubule binding activity. Involved in apical constriction; negative regulation of cilium assembly; and regulation of protein complex stability. Acts upstream of or within artery development; neural fold bending; and ventricular septum development. Located in nucleus and tight junction. Part of CERF complex. Is expressed in several structures, including alimentary system; brain; pharyngo-tympanic tube; skin; and submandibular gland primordium. Orthologous to human LUZP1 (leucine zipper protein 1). PHENOTYPE: Gene inactivation causes defective neural tube closure (exencephaly) and massive apoptosis in the hindbrain. Despite the incomplete penetrance of NTD, all homozygotes die perinatally due to complex cardiovascular anomalies. Other defects include an eyelid fusion defect, omphalocele and cleft palate. [provided by MGI curators] |