Primary Identifier | MGI:2182585 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 234959 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable nuclear receptor coactivator activity and nuclear thyroid hormone receptor binding activity. Predicted to contribute to ubiquitin protein ligase activity. Acts upstream of or within somatic stem cell population maintenance. Part of mediator complex. Is expressed in genitourinary system and limb mesenchyme. Human ortholog(s) of this gene implicated in infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly. Orthologous to human MED17 (mediator complex subunit 17). PHENOTYPE: Homozygous knockout leads to reduced body weight, breathing difficulties and thymus hypoplasia. Mice die between birth and age eight weeks as a result of abdominal and pulmonary haemorrhage and heart failure. [provided by MGI curators] |