Gene:
deafness, autosomal recessive 31
Gene ID:
198331
Symbol:
DFNB31
Species:
1000
Description:
In rat brain, Cip98 interacts with a calmodulin-dependent serine kinase, CASK (MIM 300172), and may be involved in the formation of scaffolding protein complexes that facilitate synaptic transmission in the central nervous system (CNS) (Yap et al., 2003 [PubMed 12641734]). Mutations in this gene, also known as WHRN, cause DFNB31 (MIM 607084).[supplied by OMIM]