Primary Identifier | MGI:893579 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 20218 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including identical protein binding activity; protein tyrosine kinase binding activity; and signaling adaptor activity. Involved in cell surface receptor signaling pathway and regulation of mRNA splicing, via spliceosome. Acts upstream of or within negative regulation of transcription by RNA polymerase II and regulation of RNA export from nucleus. Located in nucleus. Is expressed in several structures, including branchial arch; central nervous system; early conceptus; future brain; and gonad. Orthologous to human KHDRBS1 (KH RNA binding domain containing, signal transduction associated 1). PHENOTYPE: Homozygous mutation of this gene protects mice from age-related bone loss and the formation of fatty bone marrow. Males are infertile and females do not care for young. Some die at birth. [provided by MGI curators] |