background:
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]
Function:
Involved in directing the movement of organelles along actin filaments.
DISEASE:
Defects in MYO1A are the cause of deafness autosomal dominant type 48 (DFNA48) [MIM:607841]. DFNA48 is a form of 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.
Similarity:
Contains 3 IQ domains.
Contains 1 myosin head-like domain.
Database links:
Entrez Gene: 4128 Human
Entrez Gene: 432516 Mouse
Omim: 601478 Human
SwissProt: Q9UBC5 Human
SwissProt: O88329 Mouse
Unigene: 5394 Human
Unigene: 90450 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|
