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invs

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Official Full Name
inversin
Background
This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012]
Synonyms
INVS; inversin; INV; NPH2; NPHP2; nephrocystin-2; inversion of embryonic turning; inversion of embryo turning homolog; nephronophthisis 2 (infantile) , NPHP2; nephrocystin 2; KIAA0573; MGC133080; MGC133081; wu:fe47e11

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