Dynein, Axonemal, Heavy Chain 1

Alternative Names

  • DNAH1
  • HL11
  • DNAHC1
  • HDHC7

Associated Diseases

Spermatogenic Failure 18
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OMIM Number

603332

NCBI Gene ID

25981

Uniprot ID

Q9P2D7

Length

87,488 bases

No. of Exons

80

No. of isoforms

4

Protein Name

Dynein axonemal heavy chain 1

Molecular Mass

487498 Da

Amino Acid Count

4265

Genomic Location

chr3:52,313,009-52,400,496

Gene Map Locus
3p21.1

Description

This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_015512.4:c.4609G>AUnited Arab EmiratesNC_000003.12:g.52360348G>AUncertain SignificanceNG_052911.1:g.49030G>A; NM_015512.4:c.4609G>A; NP_056327.4:p.Val1537Met768532151
NM_015512.5:c.3460A>CSaudi ArabiaNC_000003.12:g.52353613A>CPathogenicLikely PathogenicSpermatogenic Failure 18NG_052911.1:g.42295A>C; NM_015512.5:c.3460A>C; NP_056327.4:p.Lys1154Gln544674332209005
NM_015512.5:c.5375A>GSaudi ArabiaNC_000003.12:g.52364876A>GLikely PathogenicSpermatogenic Failure 18NG_052911.1:g.53558A>G; NM_015512.5:c.5375A>G; NP_056327.4:p.Lys1792Arg755604954
NM_015512.5:c.7387C>TSaudi ArabiaNC_000003.12:g.52379914C>TLikely PathogenicSpermatogenic Failure 18NG_052911.1:g.68596C>T; NM_015512.5:c.7387C>T; NP_056327.4:p.Gln2463Ter1457821408
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