DNAI1
MIM.604366 9p21-p13
The DNAI1 gene encodes a 699-amino acid protein. Northern blot analysis detected a specific and abundant DNAI1 transcript of approximately 2.5 kb in adult trachea and testis and an additional weakly expressed DNAI1 transcript of approximately 4 kb in trachea.
Pathology
germline mutations in
- heterotaxia
- immotile cilia syndrome type 1 (IVS1DS) (MIM.242650)
- Kartagener syndrome (MIM.244400)
References
Guichard, C.; Harricane, M.-C.; Lafitte, J.-J.; Godard, P.; Zaegel, M.; Tack, V.; Lalau, G.; Bouvagnet, P. : Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). Am. J. Hum. Genet. 68: 1030-1035, 2001. PubMed ID : #11231901#
Pennarun, G.; Escudier, E.; Chapelin, C.; Bridoux, A.-M.; Cacheux, V.; Roger, G.; Clement, A.; Goossens, M.; Amselem, S.; Duriez, B. :
Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. Am. J. Hum. Genet. 65: 1508-1519, 1999. PubMed ID : #10577904#