Gene: MYO6

Alternate names for this Gene: DFNA22|DFNB37

Gene Summary: This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. This protein maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Gene is located in Chromosome: 6

Location in Chromosome : 6q14.1

Description of this Gene: myosin VI

Type of Gene: protein-coding

rs121912559 in MYO6 gene and Deafness, Autosomal Recessive 37 PMID 12687499 2003 Mutations of MYO6 are associated with recessive deafness, DFNB37.

rs121912560 in MYO6 gene and Deafness, autosomal dominant nonsyndromic sensorineural 22 PMID 15060111 2004 Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI (MYO6).

rs3798440 in MYO6 gene and Hypertensive disease PMID 21626137 2011 Two-marker association tests yield new disease associations for coronary artery disease and hypertension.

rs1280049 in MYO6 gene and Intelligence PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

rs9443189 in MYO6 gene and Prostate carcinoma PMID 25217961 2014 A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.

rs2295938 in MYO6 gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.