From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
Dynein axonemal intermediate chain 2 also known as axonemal dynein intermediate chain 2 , is a
protein that in humans is encoded by the DNAI2
gene .
[5]
[6]
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.
[5]
Clinical significance
Mutations in the DNAI2 gene are associated with
primary ciliary dyskinesia .
[7]
References
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000171595 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000034706 –
Ensembl , May 2017
^
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
a
b
"Entrez Gene: dynein" .
^ 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 .
S2CID
21558696 .
^ 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 .
This article incorporates text from the
United States National Library of Medicine , which is in the
public domain .
External links