Cochlin / COCH Recombinant Protein | COCH recombinant protein

Recombinant Human Cochlin / COCH Protein (His tag)

Cat. Num. AAA2545800

• Gene Names: COCH; DFNA9; COCH5B2; COCH-5B2
• Purity: > 92 % as determined by SDS-PAGE
• Synonyms: Cochlin / COCH; Recombinant Human Cochlin / COCH Protein (His tag); COCH; UNQ257/PRO294; COCH-5B2; COCH5B2; DFNA9; COCH recombinant protein

• Host: Human Cells
• Purity/Purification: > 92 % as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile PBS, pH 7.4
• Sequence Length: 550

• Application Notes: The recombinant full length of human COCH consists of 542 amino acids and has a calculated molecular mass of 59.4 kDa. In SDS-PAGE under reducing conditions, rhCOCH migrates as three bands with apparent molecular mass of 66, 48 and 18 kDa, corresponding to the alternative splicing isoforms.
• Predicted N Terminal: His
• Endotoxin: < 1.0 EU per mug of the protein as determined by the LAL method
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -70 degree C

SDS-PAGE

Related Product Information for COCH recombinant protein

Background: Cochlin, also known as COCH-5B2 and COCH, is a secreted protein which contains one LCCL domain and two VWFA domains. It is an abundant inner ear protein expressed as multiple isoforms. Its function is also unknown, but it is suspected to be an extracellular matrix component. Cochlin and type II collagen are major constituents of the inner ear extracellular matrix, and Cochlin constitutes 70% of non-collagenous protein in the inner ear, the cochlin isoforms can be classified into three subgroups, p63s, p44s and p40s. The expression of cochlin is highly specific to the inner ear. Eleven missense mutation and one in-frame deletion have been reported in the COCH gene, causing hereditary progressive sensorineural hearing loss and vestibular dysfunction, deafness autosomal dominant type 9 (DFNA9). The co-localization of cochlin and type II collagen in the fibrillar substance in the subepithelial area indicate that cochlin may play a role in the structural homeostasis of the vestibule acting in concert with the fibrillar type II collagen bundles. Defects in COCH may contribute to Meniere disease which is an autosomal dominant disorder characterized by hearing loss associated with episodic vertigo.

Description: A DNA sequence encoding the mature form of human COCH (NP_001128530.1) (Glu 25-Gln 550) was expressed, with a polyhistidine tag at the N-terminus.

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; Q96IU6; A8K9K9; D3DS84
• Molecular Weight: 53,230 Da
• NCBI Official Full Name: cochlin isoform b
• NCBI Official Synonym Full Names: cochlin
• NCBI Official Symbol: COCH
• NCBI Official Synonym Symbols: DFNA9; COCH5B2; COCH-5B2
• NCBI Protein Information: cochlin
• UniProt Protein Name: Cochlin
• Protein Family: Cochlin
• UniProt Gene Name: COCH
• UniProt Synonym Gene Names: COCH5B2

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: Extracellular matrix; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 14q12

Cellular Component: extracellular matrix

Molecular Function: collagen binding; protein binding

Biological Process: regulation of cell shape

Disease: Deafness, Autosomal Dominant 9