Griscelli syndrome, type 1

Gene Information


HUGO name: MYO5A


  • MYH12
  • myosin VA
  • heavy polypeptide 12
  • Myosin 5A
  • Dilute myosin heavy chain, non-muscle
  • Myosin heavy chain 12
  • Myoxin


Reference sequences

Chromosomal location


Protein Information


Protein function:

Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. May be involved in melanosome transport, or alternatively, it may be required for some polarization process involved in dendrite formation.


May be a homodimer, which associates with multiple calmodulin or myosin light chains.

Alternative products:

3 isoforms are produced by alternative splicing.


Expression pattern for human

Tissue Expression (%) Clones
eye, ciliary body 57.52 1:199
melanoma (mewo cell line) 14.32 2:1599
foreskin, melanocyte 6.79 8:13478
human skeletal muscle 4.26 4:10746
pool, melanocyte+heart+uterus 2.08 6:32944
human fetal eye 2.07 1:5520
human lung epithelial cell lines untreated lps 6hr to lps 1.82 1:6278
normal lung epithelial cells tissue nos 369-371 and 380-383 1.71 1:6713
breast 1.36 5:42231
rpe and choroid 1.08 1:10565