Gene: DNAH1

Alternate names for this Gene: CILD37|DNAHC1|HDHC7|HL-11|HL11|HSRF-1|SPGF18|XLHSRF-1

Gene 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.1

Description of this Gene: dynein axonemal heavy chain 1

Type of Gene: protein-coding

rs61734645 in DNAH1 gene and Anxiety PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs544674332 in DNAH1 gene and CILIARY DYSKINESIA, PRIMARY, 37 PMID 25927852 2015 Variation in DNAH1 may contribute to primary ciliary dyskinesia.

PMID 11371505 2001 Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency.

PMID 27573432 2017 Homozygous DNAH1 frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese.

rs544674332 in DNAH1 gene and Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus PMID 25927852 2015 Variation in DNAH1 may contribute to primary ciliary dyskinesia.

rs11706108 in DNAH1 gene and High density lipoprotein measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs4687612 in DNAH1 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs557979163 in DNAH1 gene and SPERMATOGENIC FAILURE 18 PMID 11371505 2001 Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency.

PMID 27573432 2017 Homozygous DNAH1 frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese.

PMID 29449551 2018 Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.

PMID 24360805 2014 Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella.

PMID 28552195 2017 Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella.

PMID 27798045 2016 Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.

rs2306864 in DNAH1 gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.