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中文名称： CDH23抗原（重组蛋白）
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Full name: |
cadherin-related 23 |
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Synonyms: |
USH1D, CDHR23 |
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Swissprot: |
Q9H251 |
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Gene Accession: |
BC139903 |
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Purity: |
>85%, as determined by Coomassie blue stained SDS-PAGE |
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Expression system: |
Escherichia coli |
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Tags: |
His tag C-Terminus, GST tag N-Terminus |
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Background: |
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. Alternative splice variants encoding different isoforms have been described. |
