| Primary Identifier | MGI:109239 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 16498 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable aldo-keto reductase (NADPH) activity; potassium channel regulator activity; and transmembrane transporter binding activity. Involved in neuromuscular process. Acts upstream of or within hematopoietic progenitor cell differentiation. Located in axon terminus; juxtaparanode region of axon; and postsynaptic density. Is active in axon initial segment. Is expressed in several structures, including central nervous system; genitourinary system; hemolymphoid system; intestine; and sensory organ. Used to study chromosome 1p36 deletion syndrome. Orthologous to human KCNAB2 (potassium voltage-gated channel subfamily A regulatory beta subunit 2). PHENOTYPE: Homozygous null mice show strain-specific changes in survival, body weight, thermoregulation and cold-swim induced tremors, impaired associative learning and memory, sporadic seizures and amygala hyperexcitability. Mice homozygous for a knock-in mutationshow no deficits in associative learning. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
