OC90
Description
The OC90 (otoconin 90) is a protein-coding gene located on chromosome 8.
OC90 is a major protein found in otoconia, which are calcium carbonate structures located in the saccule and utricle of the ear. It works together with OTOL1 to form a scaffold that supports the formation of otoconia. This scaffold helps to sequester calcium and create interconnecting fibers between otoconia, which are then integrated into the calcium crystal structure. Additionally, OC90, in conjunction with OTOL1, regulates the shape and growth rate of calcite crystals. While it is believed to be a homolog of Phospholipase A2, it is unlikely that OC90 exhibits this enzyme activity.
OC90 is also known as PLA2L.
Associated Diseases
- hearing loss, autosomal dominant 75
- hearing loss, autosomal dominant 80
- hearing loss, autosomal dominant 77
- autosomal recessive nonsyndromic hearing loss 4
- autosomal recessive cerebellar ataxia-blindness-deafness syndrome
- cochleosaccular degeneration-cataract syndrome
- Pendred syndrome
- type 2 diabetes mellitus
- cancer
