MYO5A gene

The MYO5A gene (MYO5A- stands for Myosin 5A) is a protein-coding gene located on chromosome 15q21.2. The gene influences RNA binding and actin binding. An important paralog of this gene is MYO5B.

This gene is one of three genes of the myosin V heavy chain and belongs to the superfamily of myosin genes. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchoring, spindle pole alignment and mRNA translocation. Myosin-V is involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane.

The protein encoded by this gene is abundant in melanocytes and neurons. It may also be required for some polarization processes in dendrite formation.

Mutations in this gene cause:

• Griscelli syndrome type 1 (GS1) and type 3 (GS3)
• and
• the neuroectodermal melanolysosomal disease (Elejalde disease): rare autosomal recessive syndrome with silver hair, generalized hypopigmentation of covered parts of the body and severe dysfunction of the central nervous system. There is evidence of large melanin granules that are unevenly distributed in the hair shaft. Abnormal melanocytes and melanosomes as well as abnormal inclusion bodies in fibroblasts may also be present.

1. Alves CP et al. (2017) MYO5A Gene Is a Target of MITF in Melanocytes. J Invest Dermatol 137:985-989.
2. Khorram E et al. (2023) Griscelli syndrome type 1: a novel pathogenic variant, and review of literature. Mol Genet Genomics 298:485-493.
3. Mohammadzadeh Shanehsaz S et al. (2015) Elejalde syndrome (ES). Dermatol Online J 21:13030/qt96833983.