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2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
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Floor 6, Suite 620
20700 44th Avenue W
Lynnwood, WA 98036
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Tel: +1 (206) 374-1102
Fax: +1 (206) 577-4565
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CIB2 / KIP2
calcium and integrin binding family member 2
CIB2 / KIP2 is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants.
| Gene Name: | calcium and integrin binding family member 2 |
| Synonyms: | CIB2, KIP2, Kinase-interacting protein 2, USH1J, DFNB48, KIP 2 |
| Target Sequences: | NM_006383 NP_006374.1 O75838 |
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