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.
Categories
Primary Antibodies
Clonality
polyclonal
Description
Plays a role in the control of cell shape and motility in the trabecular meshwork.
Host
Rabbit
Immunogen
coagulation factor C homolog, cochlin (Limulus polyphemus)
Isotype
IgG
Molecular Weight
Refer to Figures
Reactivity
Human
Regulatory
RUO
Synonyms
COCH5B2
Uniprot
O43405
Gene Id
1690
Research Area
Signal Transduction, Neuroscience
Form
liquid
Format
liquid
Purification
Immunogen affinity purified
Purity
>=95% as determined by SDS-PAGE
Storage
PBS with 0.02% sodium azide and 50% glycerol pH 7.3, -20°C for 12 months (Avoid repeated freeze / thaw cycles.)