Primary Identifier | MGI:106190 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 14025 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables transcription corepressor activity. Involved in negative regulation of transcription by RNA polymerase II and protein sumoylation. Acts upstream of or within B cell differentiation; T cell differentiation; and negative regulation of gene expression. Located in nuclear body. Part of SWI/SNF complex. Is expressed in several structures, including alimentary system; brain; genitourinary system; sensory organ; and skin. Human ortholog(s) of this gene implicated in autism spectrum disorder; beta thalassemia; schizophrenia; and sickle cell anemia. Orthologous to human BCL11A (BCL11 transcription factor A). PHENOTYPE: Homozygous mutation of this gene results in B cell deficiency, alteration of T cell types, and neonatal lethality. [provided by MGI curators] |