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Gene : DNAAF1 Homo sapiens

Name  ? dynein axonemal assembly factor 1 Cytological Location  16q24.1
Brief Description  dynein axonemal assembly factor 1
Description  The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
  • synonyms:
  • outer row dynein assembly 7 homolog (Chlamydomonas),
  • NM_178452,
  • OTTHUMG00000128517,
  • ODA7,
  • CILD13,
  • HGNC:30539,
  • leucine rich repeat containing 50,
  • DNAAF1,
  • BC024009,
  • DAU1,
  • DAU1,
  • swt,
  • LRRC50,
  • ODA7,
  • dynein (axonemal) assembly factor 1,
  • FLJ25330,
  • swt,
  • LRRC50,
  • dynein, axonemal, assembly factor 1,
  • CILD13,
  • uc002fhl.5
  • identifiers:
  • 123872,
  • ENSG00000154099,
  • DNAAF1

Genome feature

Region: gene ? Length: 33496  
Location: 16:84145266-84178761 Cyto location: 16q24.1


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0 Pathways

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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0 Pathways

3753 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results