DNAH11


DNAH11
Dynein, axonemal, heavy chain 11
Identifiers
Symbols DNAH11; CILD7; DNAHBL; DNAHC11; DNHBL; DPL11; FLJ30095; FLJ37699
External IDs OMIM603339 MGI1100864 HomoloGene2801 GeneCards: DNAH11 Gene
RNA expression pattern
PBB GE DNAH11 gnf1h00043 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 8701 13411
Ensembl ENSG00000105877 ENSMUSG00000018581
UniProt Q96DT5 n/a
RefSeq (mRNA) NM_003777 NM_010060.2
RefSeq (protein) NP_003768 NP_034190.2
Location (UCSC) Chr 7:
21.58 – 21.94 Mb
Chr 12:
119.12 – 119.44 Mb
PubMed search [1] [2]

Dynein heavy chain 11, axonemal is a protein that in humans is encoded by the DNAH11 gene.[1][2]

Contents

Function

This gene encodes a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing primary ciliary dyskinesia (PCD, formerly called 'immotile cilia syndrome') and Kartagener syndrome (PCD with situs inversus totalis). Males with PCD are not sterile, but are infertile due to lack of sperm motility.[2]. There are reports of subfertility and increased risk of ectopic pregnancy in women with PCD. [3]

References

  1. ^ Chapelin C, Duriez B, Magnino F, Goossens M, Escudier E, Amselem S (Sep 1997). "Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment". FEBS Lett 412 (2): 325–30. doi:10.1016/S0014-5793(97)00800-4. PMID 9256245. 
  2. ^ a b "Entrez Gene: DNAH11 dynein, axonemal, heavy chain 11". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8701. 
  3. ^ Blyth M, Wellesley D (April 2008). "Ectopic pregnancy in primary ciliary dyskinesia". J Obstet Gynaecol 28 (3): 358. doi:10.1080/01443610802058742. PMID 18569496. 

Further reading

External links


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