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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.
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]
Involved in directing the movement of organelles along actin filaments.
NOTE: UniProt (MYO1A_HUMAN) (http://www.uniprot.org/uniprot/Q9UBC5) suggests using caution when interpreting this information.
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.
|607841 (http://omim.org/entry/607841)||DEAFNESS, AUTOSOMAL DOMINANT 48|
|601478 (http://omim.org/entry/601478)||MYOSIN IA|
Cytogenetic Location: 12q13-q14
Molecular Location on chromosome 12: base pairs 57,028,517 to 57,050,765
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
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.
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.