Cdh23 - cadherin 23 (otocadherin) Gene

种属: Mus musculus

同用名: v; ahl; bob; bus; ahl1; mdfw; sals; USH1D; nmf112; nmf181; nmf252; 4930542A03Rik

关于 Cdh23

功能概要

Predicted to enable Cadherin binding activity; calcium ion binding activity; and protein N-terminus binding activity. Acts upstream of or within several processes, including animal organ morphogenesis; righting reflex; and sensory perception of sound. Located in several cellular components, including cochlear hair cell ribbon synapse; kinocilium; and stereocilium tip. Is active in photoreceptor ribbon synapse. Is expressed in several structures, including brain; genitourinary system; lung; sensory organ; and thymus. Used to study Usher syndrome type 1D and autosomal recessive nonsyndromic deafness 12. Human ortholog(s) of this gene implicated in Usher syndrome type 1D; autosomal recessive nonsyndromic deafness; autosomal recessive nonsyndromic deafness 12; and pituitary adenoma 5. Orthologous to human CDH23 (Cadherin related 23). [provided by Alliance of Genome Resources, Apr 2022]