DNAI2


DNAI2
Dynein, axonemal, intermediate chain 2
Identifiers
Symbols DNAI2; CILD9
External IDs OMIM605483 MGI2685574 HomoloGene11311 GeneCards: DNAI2 Gene
Orthologs
Species Human Mouse
Entrez 64446 432611
Ensembl ENSG00000171595 ENSMUSG00000034706
UniProt Q9GZS0 A2AC93
RefSeq (mRNA) NM_001172810.1 NM_001034878.2
RefSeq (protein) NP_001166281.1 NP_001030050.2
Location (UCSC) Chr 17:
72.27 – 72.31 Mb
Chr 11:
114.59 – 114.62 Mb
PubMed search [1] [2]

Dynein intermediate chain 2, axonemal, also known as axonemal dynein intermediate chain 2, is a protein that in humans is encoded by the DNAI2 gene.[1][2]

Contents

Function

The protein encoded by this gene belongs to the dynein intermediate chain family, and is part of the dynein complex of respiratory cilia and sperm flagella.[1]

Clinical significance

Mutations in the DNAI2 gene are associated with primary ciliary dyskinesia.[3]

References

  1. ^ a b "Entrez Gene: dynein". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=64446. 
  2. ^ Pennarun G, Chapelin C, Escudier E, Bridoux AM, Dastot F, Cacheux V, Goossens M, Amselem S, Duriez B (December 2000). "The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia". Hum. Genet. 107 (6): 642–9. doi:10.1007/s004390000427. PMID 11153919. 
  3. ^ Loges NT, Olbrich H, Fenske L, Mussaffi H, Horvath J, Fliegauf M, Kuhl H, Baktai G, Peterffy E, Chodhari R, Chung EM, Rutman A, O'Callaghan C, Blau H, Tiszlavicz L, Voelkel K, Witt M, Zietkiewicz E, Neesen J, Reinhardt R, Mitchison HM, Omran H (November 2008). "DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm". Am. J. Hum. Genet. 83 (5): 547–58. doi:10.1016/j.ajhg.2008.10.001. PMC 2668028. PMID 18950741. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2668028. 

External links


This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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