Gene: FAM219A

Alternate names for this Gene: C9orf25

Gene Summary: The protein encoded by this gene has homologs that have been identified in mouse, macaque, etc organisms. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.

Gene is located in Chromosome: 9

Location in Chromosome : 9p13.3

Description of this Gene: family with sequence similarity 219 member A

Type of Gene: protein-coding

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

rs397515363 in FAM219A;DNAI1 gene and Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus PMID 10577904 1999 Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

PMID 23477994 2013 Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.

rs397515363 in FAM219A;DNAI1 gene and Ciliary Motility Disorders PMID 26918822 2016 DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia.

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

PMID 16858015 2006 Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.

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

PMID 10577904 1999 Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

PMID 29363216 2018 Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients.