Gene: DNAI1

Alternate names for this Gene: CILD1|DIC1|ICS1|PCD

Gene Summary: This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 9

Location in Chromosome : 9p13.3

Description of this Gene: dynein axonemal intermediate chain 1

Type of Gene: protein-coding

rs200669099 in DNAI1 gene and Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus PMID 16858015 2006 Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.

PMID 21270641 2011 Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing.

PMID 11231901 2001 Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).

rs200488444 in DNAI1 gene and Ciliary Motility Disorders PMID 16858015 2006 Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.

PMID 21270641 2011 Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing.

PMID 11713099 2001 Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.

PMID 18434704 2008 DNAI1 mutations explain only 2% of primary ciliary dykinesia.

PMID 21143860 2010 Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD).

PMID 11231901 2001 Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).

PMID 19675306 2010 Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis.