Primary Identifier | MGI:2139535 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 97031 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables actin binding activity and protein phosphatase binding activity. Involved in sensory perception of sound and stereocilium maintenance. Acts upstream of or within auditory receptor cell stereocilium organization. Located in microvillus and stereocilium base. Is expressed in several structures, including central nervous system; genitourinary system; immune system; respiratory system; and submandibular gland. Used to study autosomal recessive nonsyndromic deafness 79. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 79. Orthologous to human TPRN (taperin). PHENOTYPE: Mice homozygous for a knock-out allele exhibit hearing loss and degeneration of hair cell stereocilia. [provided by MGI curators] |