DNAH5

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DNAH5
Identifiers
Aliases DNAH5, CILD3, DNAHC5, HL1, KTGNR, PCD, dynein axonemal heavy chain 5
External IDs MGI: 107718 HomoloGene: 1048 GeneCards: DNAH5
Genetically Related Diseases
astigmatism, type I hypersensitivity, atherosclerosis[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001369

NM_133365

RefSeq (protein)

NP_001360

NP_579943.3

Location (UCSC) Chr 5: 13.69 – 13.94 Mb Chr 15: 28.2 – 28.47 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Dynein heavy chain 5, axonemal is a protein that in humans is encoded by the DNAH5 gene.[4][5][6]


References[edit]

  1. ^ "Diseases that are genetically associated with DNAH5 view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ 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. 
  5. ^ Olbrich H, Haffner K, Kispert A, Volkel A, Volz A, Sasmaz G, Reinhardt R, Hennig S, Lehrach H, Konietzko N, Zariwala M, Noone PG, Knowles M, Mitchison HM, Meeks M, Chung EM, Hildebrandt F, Sudbrak R, Omran H (Jan 2002). "Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry". Nat Genet. 30 (2): 143–4. doi:10.1038/ng817. PMID 11788826. 
  6. ^ "Entrez Gene: DNAH5 dynein, axonemal, heavy chain 5". 

External links[edit]

Further reading[edit]