Primary Identifier | MGI:1276545 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 18193 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including nuclear receptor binding activity; protein-lysine N-methyltransferase activity; and transcription corepressor activity. Involved in negative regulation of transcription by RNA polymerase II. Acts upstream of or within gastrulation with mouth forming second. Located in nucleus. Is expressed in several structures, including central nervous system; dorsal root ganglion; genitourinary system; long bone epiphysis; and retina. Human ortholog(s) of this gene implicated in Sotos syndrome; Sotos syndrome 1; acute myeloid leukemia; microcephaly; and neuroblastoma. Orthologous to human NSD1 (nuclear receptor binding SET domain protein 1). PHENOTYPE: Homozygotes for targeted null mutations exhibit excess apoptosis and retarded growth, fail to complete gastrulation, and are resorbed by embryonic day 10. [provided by MGI curators] |