DNAH11

From Wikipedia, the free encyclopedia
Jump to: navigation, search
DNAH11
Identifiers
Aliases DNAH11, CILD7, DNAHBL, DNAHC11, DNHBL, DPL11, dynein axonemal heavy chain 11
External IDs MGI: 1100864 HomoloGene: 2801 GeneCards: 8701
Genetically Related Diseases
Disease Name References
multiple myeloma
RNA expression pattern
PBB GE DNAH11 gnf1h00043 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001277115

NM_010060

RefSeq (protein)

NP_001264044.1

n/a

Location (UCSC) Chr 7: 21.54 – 21.9 Mb Chr 12: 117.88 – 118.2 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

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

Function[edit]

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[edit]

  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". 
  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[edit]

External links[edit]