Primary Identifier | MGI:2442071 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 245607 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables amyloid-beta binding activity. Acts upstream of or within hematopoietic stem cell homeostasis. Predicted to be located in cytoplasm. Predicted to be active in cytosol and nucleus. Is expressed in central nervous system and neural retina. Used to study autism spectrum disorder and intellectual disability. Human ortholog(s) of this gene implicated in X-linked deafness 7. Orthologous to several human genes including GPRASP2 (G protein-coupled receptor associated sorting protein 2). PHENOTYPE: Male mice hemizygous for a knock-out allele exhibit increased body weight, autism-like behaviors, alterations in hippocampal pyramidal neuron dendrite complexity, spine density and synaptic maturation, impaired glutamatergic transmission, and enhanced hippocampal long-term depression. [provided by MGI curators] |