Gene: DNAH6

Alternate names for this Gene: DNHL1|Dnahc6|HL-2|HL2

Gene Summary: This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy.

Gene is located in Chromosome: 2

Location in Chromosome : 2p11.2

Description of this Gene: dynein axonemal heavy chain 6

Type of Gene: protein-coding

rs3890771 in DNAH6 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs1918690 in DNAH6 gene and Hypospadias PMID 25108383 2014 Genome-wide association analyses identify variants in developmental genes associated with hypospadias.

rs3890771 in DNAH6 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.