Primary Identifier | MGI:104709 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 22378 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable DNA binding activity; nuclear estrogen receptor binding activity; and transcription coactivator activity. Predicted to be involved in several processes, including cellular response to estrogen stimulus; positive regulation of intracellular estrogen receptor signaling pathway; and positive regulation of macromolecule biosynthetic process. Predicted to be located in chromatin; cytosol; and nucleoplasm. Predicted to be active in nucleus. Is expressed in epidermis and epidermis basal layer. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 107. Orthologous to human WBP2 (WW domain binding protein 2). PHENOTYPE: Mice homozygous for a null allele show progressive high-frequency hearing loss, raised auditory brainstem response (ABR) thresholds, reduced ABR amplitudes, swelling of afferent terminals, inner hair cell synapse defects, and altered expression of AMPA receptor subunits and post-synaptic proteins. [provided by MGI curators] |