Primary Identifier | MGI:1926483 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 58235 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including cell adhesion mediator activity; protein homodimerization activity; and virus receptor activity. Involved in cochlea morphogenesis; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; and homophilic cell adhesion via plasma membrane adhesion molecules. Acts upstream of or within several processes, including camera-type eye development; desmosome organization; and enamel mineralization. Located in adherens junction; apical junction complex; and cell-cell contact zone. Is active in hippocampal mossy fiber to CA3 synapse and presynaptic active zone membrane. Is expressed in brain; jaw; renal vesicle; sensory organ; and skin. Human ortholog(s) of this gene implicated in cleft lip; cleft lip-palate-ectodermal dysplasia syndrome; cleft palate; and ectodermal dysplasia. Orthologous to human NECTIN1 (nectin cell adhesion molecule 1). PHENOTYPE: Homozygous null mice exhibit eye abnormalities including microphthalmia, absent vitreous body, abnormal ciliary body, retinal layers, and lenses, and open eyelids at birth. [provided by MGI curators] |