Dynein Axonemal Assembly Factor 5

Alternative Names

  • DNAAF5
  • Heat Repeat-Containing Protein 2
  • HEATR2
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OMIM Number

614864

NCBI Gene ID

54919

Uniprot ID

Q86Y56

Length

59,787 bases

No. of Exons

14

No. of isoforms

3

Protein Name

Dynein axonemal assembly factor 5

Molecular Mass

93521 Da

Amino Acid Count

855

Genomic Location

chr7:726,691-786,477

Gene Map Locus
7p22.3

Description

The protein encoded by this gene is essential for the preassembly or stability of axonemal dynein arms, and is found only in organisms with motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia-18, a disorder characterized by abnormalities of motile cilia. Alternatively spliced transcript variants have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_017802.3:c.1292T>CUnited Arab EmiratesNC_000007.14:g.756816T>CUncertain SignificanceNG_033137.1:g.35116T>C; NM_017802.3:c.1292T>C; NP_060272.3:p.Val431Ala
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