Gene: CIB2
Alternate names for this Gene: DFNB48|KIP2|USH1J
Gene Summary: The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 15
Location in Chromosome : 15q25.1
Description of this Gene: calcium and integrin binding family member 2
Type of Gene: protein-coding