MYO6 myosin VI
Gene ID: 4646, updated on 19-Sep-2024Gene type: protein coding
Also known as: DFNA22; DFNB37
- See all available tests in GTR for this gene
- Go to complete Gene record for MYO6
- Go to Variation Viewer for MYO6 variants
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. [provided by RefSeq, Jul 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer. GeneReviews: Not available | |
| Autosomal dominant nonsyndromic hearing loss 22 | See labs |
| Autosomal recessive nonsyndromic hearing loss 37 | See labs |
| Two-marker association tests yield new disease associations for coronary artery disease and hypertension. GeneReviews: Not available |
Genomic context
- Location:
- 6q14.1
- Sequence:
- Chromosome: 6; NC_000006.12 (75749239..75919537)
- Total number of exons:
- 40
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MYO6 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CCHMC - Human Genetics Mutation Database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- Hereditary Hearing Loss Homepage
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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