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Predicted to react with bovine based on sequence homology.
Cochlin is a secreted protein encoded by the coagulation factor C homology (COCH) gene, a cochlear gene. It constitutes 70% of the inner ear proteins and is classified into three glycosylated isoforms: p63s, p44s and p40. Cochlin contains an N-terminal LCCL domain and two von Willebrand factor A-like domains. Mutations in the COCH gene cause DFNA9, an autosomal dominant nonsyndromic auditory and vestibular dysfunction disorder, as a result of either an amino acid deletion in the LCCL domain or missense substitutions. Microfibrillar deposits accumulate in the inner ear of individuals with DFNA9 and these deposits may contain the Cochlin protein. Cochlin is a target antigen for autoimmune sensorineural hearing loss.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: coagulation factor C homolog, cochlin (Limulus polyphemus); COCH-5B2; Cochlin; PRO294; UNQ257
基因别名: COCH; COCH-5B2; COCH5B2; DFNA9; UNQ257/PRO294
UniProt ID: (Human) O43405
Entrez Gene ID: (Human) 1690