Gene Symbol | DNAH1 |
Entrez Gene ID | 25981 |
Full Name | dynein axonemal heavy chain 1 |
Synonyms | CILD37,DNAHC1,HDHC7,HL-11,HL11,HSRF-1,SPGF18,XLHSRF-1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Feb 2017]. |
Disorder MIM: | |
Disorder Html: | Spermatogenic failure 18, 617576 (3); ?Ciliary dyskinesia, primary, 37, 617577 (3) |