Primary Identifier | MGI:2138584 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 227331 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable molecular adaptor activity and proline-rich region binding activity. Acts upstream of or within several processes, including insulin-like growth factor receptor signaling pathway; mitotic G1 DNA damage checkpoint signaling; and spinal cord motor neuron differentiation. Located in several cellular components, including perikaryon; proximal dendrite; and vesicle. Is expressed in several structures, including central nervous system; genitourinary system; intestine; liver; and lung. Human ortholog(s) of this gene implicated in Parkinson's disease. Orthologous to human GIGYF2 (GRB10 interacting GYF protein 2). PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal and postnatal lethality. Mice heterozygous for a knock-out allele exhibit impaired motor coordination with motor neuron degeneration. [provided by MGI curators] |