背景
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.
