Primary Identifier | MGI:2685563 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 279653 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable calcium ion binding activity. Predicted to be involved in cell adhesion. Predicted to be active in plasma membrane. Is expressed in several structures, including alimentary system; embryo mesenchyme; future brain; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 9. Orthologous to human PCDH19 (protocadherin 19). PHENOTYPE: Female mice heterozygous for a null mutation display abnormal electrocorticograms and distinct clusters of null and wild-type cells in the brain. [provided by MGI curators] |