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MYO6

MYO6

The information on this page was automatically extracted from online scientific databases.

What is the official name of the MYO6 gene?

The official name of this gene is “myosin VI.”

MYO6 is the gene's official symbol. The MYO6 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the MYO6 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProt (MYO6_HUMAN)This link leads to a site outside Genetics Home Reference.:

Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin filaments. Has slow rate of actin-activated ADP release due to weak ATP binding. Functions in a variety of intracellular processes such as vesicular membrane trafficking and cell migration. Required for the structural integrity of the Golgi apparatus via the p53-dependent pro-survival pathway. Appears to be involved in a very early step of clathrin-mediated endocytosis in polarized epithelial cells. May act as a regulator of F-actin dynamics. May play a role in transporting DAB2 from the plasma membrane to specific cellular targets. Required for structural integrity of inner ear hair cells.

NOTE: UniProt (MYO6_HUMAN)This link leads to a site outside Genetics Home Reference. suggests using caution when interpreting this information.

How are changes in the MYO6 gene related to health conditions?

Genetics Home Reference provides information about nonsyndromic hearing loss, which is associated with changes in the MYO6 gene.
UniProt (MYO6_HUMAN)This link leads to a site outside Genetics Home Reference. provides the following information about the MYO6 gene's known or predicted involvement in human disease.

Deafness, autosomal dominant, 22 (DFNA22): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA22 is progressive and postlingual, with onset during childhood. By the age of approximately 50 years, affected individuals invariably have profound sensorineural deafness. The disease is caused by mutations affecting the gene represented in this entry.

Deafness, autosomal recessive, 37 (DFNB37): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by mutations affecting the gene represented in this entry.

Deafness, sensorineural, with hypertrophic cardiomyopathy (DFNHCM): An autosomal dominant sensorineural deafness associated with hypertrophic cardiomyopathy. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the MYO6 gene.
  • Deafness, autosomal dominant 22
  • Deafness, autosomal recessive 37
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the MYO6 gene and its association with health conditions.
OMIM
Number
Title

Where is the MYO6 gene located?

Cytogenetic Location: 6q13

Molecular Location on chromosome 6: base pairs 75,749,176 to 75,919,537

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The MYO6 gene is located on the long (q) arm of chromosome 6 at position 13.

The MYO6 gene is located on the long (q) arm of chromosome 6 at position 13.

More precisely, the MYO6 gene is located from base pair 75,749,176 to base pair 75,919,537 on chromosome 6.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about MYO6?

You and your healthcare professional may find the following resources about MYO6 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the MYO6 gene or gene products?

  • DFNA22
  • DFNB37

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding MYO6?

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: February 1, 2016