Aliases for OTOL1 Gene
External Ids for OTOL1 Gene
Previous GeneCards Identifiers for OTOL1 Gene
This gene encodes a secreted glycoprotein with a C-terminal complement Cq1-like globular domain that belongs to the C1q/tumor necrosis factor-related protein (CTRP) family. The encoded protein is expressed in the inner ear and forms a multimeric complex called the otoconia, together with cerebellin-1 and otoconin-90, as part of the otoconial membrane. It contains extensive posttranslational modifications including hydroxylated prolines and glycosylated lysines. Naturally occurring mutations in this gene are associated with abnormal otoconia formation and balance deficits resulting from vestibular dysfunction. [provided by RefSeq, Jul 2017]
GeneCards Summary for OTOL1 Gene
OTOL1 (Otolin 1) is a Protein Coding gene. An important paralog of this gene is COL10A1.