Gene Symbol | INVS |
Entrez Gene ID | 27130 |
Full Name | inversin |
Synonyms | INV,NPH2,NPHP2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Nephronophthisis 2, infantile, 602088 (3) |