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MYO1A

MYO1A

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

What is the official name of the MYO1A gene?

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

MYO1A is the gene's official symbol. The MYO1A 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 MYO1A gene?

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

This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional myosins contain the basic domains characteristic of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with autosomal dominant deafness. Alternatively spliced variants have been found for this gene. [provided by RefSeq, Dec 2011]

From UniProt (MYO1A_HUMAN)This link leads to a site outside Genetics Home Reference.:

Involved in directing the movement of organelles along actin filaments.

NOTE: UniProt (MYO1A_HUMAN)This link leads to a site outside Genetics Home Reference. suggests using caution when interpreting this information.

How are changes in the MYO1A gene related to health conditions?

UniProt (MYO1A_HUMAN)This link leads to a site outside Genetics Home Reference. provides the following information about the MYO1A gene's known or predicted involvement in human disease.

Deafness, autosomal dominant, 48 (DFNA48): 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.

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 MYO1A gene.
  • Deafness, autosomal dominant 48
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 MYO1A gene and its association with health conditions.
OMIM
Number
Title

Where is the MYO1A gene located?

Cytogenetic Location: 12q13-q14

Molecular Location on chromosome 12: base pairs 57,028,517 to 57,050,765

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

The MYO1A gene is located on the long (q) arm of chromosome 12 between positions 13 and 14.

The MYO1A gene is located on the long (q) arm of chromosome 12 between positions 13 and 14.

More precisely, the MYO1A gene is located from base pair 57,028,517 to base pair 57,050,765 on chromosome 12.

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

Where can I find additional information about MYO1A?

You and your healthcare professional may find the following resources about MYO1A 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 MYO1A gene or gene products?

  • BBMI
  • DFNA48
  • MIHC
  • MYHL

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 MYO1A?

actin ; autosomal ; autosomal dominant ; class ; gene ; myosin ; protein ; sensorineural ; sensorineural hearing loss ; skeletal muscle

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

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 8, 2016