Primary Identifier | MGI:109178 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 14168 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables sodium channel regulator activity; transmembrane transporter binding activity; and tubulin binding activity. Involved in several processes, including learning or memory; negative regulation of cellular component organization; and nervous system development. Acts upstream of or within branching morphogenesis of a nerve; learning or memory; and neurogenesis. Located in several cellular components, including growth cone; intercalated disc; and lateral plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; integumental system; peripheral nervous system; and sensory organ. Used to study intellectual disability. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 90 and non-syndromic X-linked intellectual disability. Orthologous to human FGF13 (fibroblast growth factor 13). PHENOTYPE: Males hemizgyous for a null allele die by E12.5. Heterozyous females for this allele develop spontaneous seizures and have increased susceptibility to hyperthermia-induced seizures and epilepsy. [provided by MGI curators] |