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COCH Antigen Profile
Beschreibung des Gens
The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated.
Alternative names and synonyms associated with COCH
cochlin (Coch) ELISA Kit
cochlin (COCH) ELISA Kit
AW122937 ELISA Kit
Coch-5B2 ELISA Kit
D12H14S564E ELISA Kit
COCH-5B2 ELISA Kit
COCH5B2 ELISA Kit
DFNA9 ELISA Kit
Bezeichner auf Proteinebene für COCH
coagulation factor C homolog (Limulus polyphemus)
, coagulation factor C homolog, cochlin (Limulus polyphemus)