MYO3B
Description
The MYO3B (myosin IIIB) is a protein-coding gene located on chromosome 2.
MYO3B is an actin-based motor protein with protein kinase activity. It plays a crucial role in the development of the cochlear hair bundle, which is essential for hearing. During early hair bundle morphogenesis, MYO3B influences the number and length of stereocilia, and regulates the growth of microvilli, contributing to the unique staircase structure of the hair bundle. By transporting the actin regulatory factor ESPN to the plus ends of actin filaments, MYO3B is involved in the elongation of actin within stereocilia tips.
MYO3B is also known as -.
Associated Diseases
- hearing loss, autosomal dominant 80
- autosomal dominant epilepsy with auditory features
- autosomal recessive nonsyndromic hearing loss 4
- developmental and epileptic encephalopathy, 9
- generalized epilepsy with febrile seizures plus, type 2
- benign familial infantile epilepsy
- developmental delay, impaired speech, and behavioral abnormalities, with or without seizures
- juvenile myoclonic epilepsy
