Goat CDH23/USH1D Polyclonal Antibody | anti-CDH23 antibody

Goat anti-CDH23/USH1D Antibody

Cat. Num. AAA421803

• Gene Names: CDH23; USH1D; CDHR23
• Reactivity: Tested: Human; Expected from sequence similarity: Human
• Applications: ELISA, Western Blot
• Purity: Purified from goat serum by ammonium sulphate precipitation followed by antigen affinity chromatography using the immunizing peptide.
• Synonyms: CDH23/USH1D; Polyclonal Antibody; Goat anti-CDH23/USH1D Antibody; CDH23; USH1D; cadherin-like 23; DFNB12; DKFZp434P2350; FLJ00233; FLJ36499; KIAA1774; KIAA1812; MGC102761; USH1H; OTTHUMP00000044780; cadherin 23; cadherin related 23; cadherin-23; otocadherin; CDH23 antibody; USH1D antibody; cadherin-like 23 antibody; DFNB12 antibody; DKFZp434P2350 antibody; FLJ00233 antibody; FLJ36499 antibody; KIAA1774 antibody; KIAA1812 antibody; MGC102761 antibody; USH1H antibody; OTTHUMP00000044780 antibody; cadherin 23 antibody; cadherin related 23 antibody; cadherin-23 antibody; otocadherin antibody; CDH23 / USH1D; anti-CDH23 antibody

• Host: Goat
• Reactivity: Tested: Human; Expected from sequence similarity: Human
• Clonality: Polyclonal
• Purity/Purification: Purified from goat serum by ammonium sulphate precipitation followed by antigen affinity chromatography using the immunizing peptide.
• Form/Format: Supplied at 0.5 mg/ml in Tris saline, 0. 02% sodium azide, pH7.3 with 0.5% bovine serum albumin.
• Concentration: 100ug specific antibody in 200ul (varies by lot)
• Sequence: YNISLYENVTVGTS
• Sequence Length: 3354

• Applicable Applications for anti-CDH23 antibody: Peptide ELISA (EIA), Western Blot (WB)
• Application Notes: Peptide ELISA: Antibody detection limit dilution 1: 1000.; Western Blot: Approx 60kDa band observed in Human Brain (Amygdala and Frontal Cortex lysates (calculated MW of 58.6kDa according to NP_443068.1). Recommended concentration: 1-3ug/ml.
• Immunogen: Peptide with sequence C-YNISLYENVTVGTS, from the internal region of the protein sequence according to NP_071407.3; NP_443068.1.
• Epitope: Internal region
• Note: This antibody is expected to recognize both reported isoforms (NP_071407.3; NP_443068.1).
• Preparation and Storage: Aliquot and store at -20 degree C. Minimize freezing and thawing.

Western Blot (WB)

((1ug/ml) staining of Human Amygdala lysate (35ug protein in RIPA buffer). Primary incubation was 1 hour. Detected by chemiluminescence.)

NCBI and Uniprot Product Information

• NCBI GI #: 153251203
• NCBI GeneID: 64072
• NCBI Accession #: NP_071407.3; NP_443068.1
• NCBI GenBank Nucleotide #: NM_022124.3
• Molecular Weight: 23,900 Da
• NCBI Official Full Name: cadherin related 23 isoform 1
• NCBI Official Synonym Full Names: cadherin-related 23
• NCBI Official Symbol: CDH23
• NCBI Official Synonym Symbols: USH1D; CDHR23
• NCBI Protein Information: cadherin-23
• UniProt Protein Name: Cadherin-23
• Protein Family: Cadherin
• UniProt Gene Name: CDH23
• UniProt Synonym Gene Names: KIAA1774; KIAA1812
• UniProt Entry Name: CAD23_HUMAN

NCBI Description

This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]

Uniprot Description

CDH23: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. Defects in CDH23 are the cause of Usher syndrome type 1D (USH1D). USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Defects in CDH23 are a cause of Usher syndrome type 1D/F (USH1DF). USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern. Defects in CDH23 are the cause of deafness autosomal recessive type 12 (DFNB12). DFNB12 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. 8 isoforms of the human protein are produced by alternative splicing.

Protein type: Motility/polarity/chemotaxis; Membrane protein, integral; Cell adhesion

Chromosomal Location of Human Ortholog: 10q22.1

Cellular Component: integral to membrane; membrane; plasma membrane; stereocilium

Molecular Function: calcium ion binding; protein binding

Biological Process: calcium ion transport; calcium-dependent cell-cell adhesion; cytosolic calcium ion homeostasis; equilibrioception; homophilic cell adhesion; inner ear receptor stereocilium organization and biogenesis; locomotory behavior; photoreceptor cell maintenance; response to stimulus; sensory perception of light stimulus; sensory perception of sound; visual perception

Disease: Deafness, Autosomal Recessive 12; Usher Syndrome, Type Id