Rabbit anti-Human MYO5A Polyclonal Antibody

Uniprot Id

Q9Y4I1

Target Species

Human

Target Name

MYO5A

Target Full Name

Unconventional myosin-Va

Target Function

Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation.

Target Involvement

Griscelli syndrome 1 (GS1); Griscelli syndrome 3 (GS3); Elejalde syndrome (ELEJAS)

Target Protein Families

TRAFAC class myosin-kinesin ATPase superfamily, Myosin family

Target Tissue Specificity

Detected in melanocytes.

Target Synonyms

GS1; MYO5; MYH12; MYR12; MYO5A

Target Background

This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined.