Primary Identifier | MGI:98742 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 21833 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables chromatin DNA binding activity; nuclear receptor activity; and transcription cis-regulatory region binding activity. Involved in mRNA transcription by RNA polymerase II; positive regulation of metabolic process; and positive regulation of thyroid hormone receptor signaling pathway. Acts upstream of or within several processes, including cartilage condensation; female mating behavior; and type I pneumocyte differentiation. Located in nucleus. Part of RNA polymerase II transcription regulator complex. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; and sensory organ. Used to study thyroid hormone resistance syndrome. Human ortholog(s) of this gene implicated in congenital nongoitrous hypothyroidism 6 and renal cell carcinoma. Orthologous to human THRA (thyroid hormone receptor alpha). PHENOTYPE: Mutations in this gene result in diverse phenotypes depending on the location and severity of the mutation. Observed phenotypes may include alterations in thyroid physiology, intestinal remodeling, cerebellum development, bone growth, cardiac function, thermogenesis, and fertility. [provided by MGI curators] |