Cochlin Active Protein | COCH active protein

Cochlin, Recombinant, Human (COCH, Coagulation Factor C Homolog (Limulus polyphemus), COCH5B2, COCH-5B2, Cochlin Precursor, DFNA31, DFNA9, UNQ257/PRO294)

Cat. Num. AAA636113

• Gene Names: COCH; DFNA9; COCH5B2; COCH-5B2
• Purity: Highly Purified; ~ 90% by SDS­PAGE under reducing conditions and visualized by silver stain. Endotoxin: 1.0 EU/1ug (LAL)
• Synonyms: Cochlin; Recombinant; Human (COCH; Coagulation Factor C Homolog (Limulus polyphemus); COCH5B2; COCH-5B2; Cochlin Precursor; DFNA31; DFNA9; UNQ257/PRO294); COCH active protein

• Purity/Purification: Highly Purified; ~ 90% by SDS­PAGE under reducing conditions and visualized by silver stain. Endotoxin: 1.0 EU/1ug (LAL)
• Form/Format: Supplied as a lyophilized powder from PBS. Reconstitute with sterile PBS to ~0.1mg/ml.

• Activity: Measured by its ability to support the adhesion of SW1353 cells (human chondrosarcoma cells, ATCC: HTB-94). When 5x10e4 cells per well were added to rhCochlin coated plates (10ug/ml, 100ul/well) ~70-90% will adhere after 60 minutes at 37ºC. The protein also enhances IFNg secretion by anti-CD3 activated human T cells.
• Preparation and Storage: Lyophilized powder may be stored at -20 degree C. Stable for 12 months at -20 degree C. Reconstitute with sterile PBS. Aliquot and store at -20 degree C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.

Related Product Information for COCH active protein

Cochlin, also known as Coch-5B2, is an N-glycosylated protein that constitutes the major protein component of inner ear extracellular matrix. The predominant species in human, mouse, rat, and bovine are the 63kD full length protein, two 40 and 46kD isoforms that lack the LCCL domain, and a 16kD isoform that lacks both VWF-A domains. Cochlin is also susceptible to proteolysis between the LCCL and VWF-A1 domains. Mature full length human Cochlin shares 96% aa sequence identity with bovine, mouse, and rat Cochlin. Cochlin is secreted by inner ear fibrocytes and accumulates in acidophilic deposits of the cochlea and vestibule. Several point mutations in the LCCL domain are associated with the autosomal hearing loss disorder DFNA9, and the resulting mutant proteins exhibit altered aggregation and matrix association properties. The 63 and 16kD isoforms are also present in perilymph fluid. Cochlin is a target of IFNg producing T cells in autoimmune sensorineural hearing loss (ASNHL). Cochlin associates with the choline transporter CTL2 which itself is a target of autoimmune-mediated hearing loss. Cochlin, absent in normal trabecular meshwork (TM) of the eye, is upregulated in glaucoma and is deposited around TM cells. It promotes the in vitro aggregation of TM cells and TM cell adhesion to collagen. Polymorphisms within the second VFW-A domain are associated with glaucoma.

Product Categories/Family for COCH active protein

Molecular Biology; MB-Coagulation Factors

NCBI and Uniprot Product Information

• NCBI GI #: 205277471
• NCBI GeneID: 1690
• NCBI Accession #: NP_001128530.1
• NCBI GenBank Nucleotide #: NM_001135058.1
• UniProt Accession #: O43405; A8K9K9; D3DS84
• Molecular Weight: Based on N-terminal amino acid sequencing, the recombinant human Cochlin starts with 6 histidines followed by Glu25 and has a calculated molecular mass of 58kD. The recombinant protein migrates as an approximately 64-66kD protein in SDS-PAGE under reducin
• NCBI Official Full Name: cochlin
• NCBI Official Synonym Full Names: cochlin
• NCBI Official Symbol: COCH
• NCBI Official Synonym Symbols: DFNA9; COCH5B2; COCH-5B2
• NCBI Protein Information: cochlin; coagulation factor C homolog, cochlin (Limulus polyphemus)
• UniProt Protein Name: Cochlin
• Protein Family: Cochlin
• UniProt Gene Name: COCH
• UniProt Synonym Gene Names: COCH5B2
• UniProt Entry Name: COCH_HUMAN

NCBI Description

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. [provided by RefSeq, Oct 2008]

Uniprot Description

COCH: Plays a role in the control of cell shape and motility in the trabecular meshwork. Defects in COCH are the cause of deafness autosomal dominant type 9 (DFNA9). DFNA9 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA9 is characterized by onset in the fourth or fifth decade of life and initially involves the high frequencies. Deafness is progressive and usually complete by the sixth decade. In addition to cochlear involvement, DFNA9 patients also exhibit a spectrum of vestibular dysfunctions. Penetrance of the vestibular symptoms is often incomplete, and some patients are minimally affected, whereas others suffer from severe balance disturbances and episodes of vertigo. Affected individuals have mucopolysaccharide depositions in the channels of the cochlear and vestibular nerves. These depositions apparently cause strangulation and degeneration of dendritic fibers.

Protein type: Secreted, signal peptide; Secreted; Extracellular matrix

Chromosomal Location of Human Ortholog: 14q11.2-q13

Cellular Component: extracellular matrix; proteinaceous extracellular matrix

Molecular Function: collagen binding; protein binding

Biological Process: regulation of cell shape; sensory perception of sound; positive regulation of innate immune response; defense response to bacterium

Disease: Deafness, Autosomal Dominant 9