The myh3 gene encodes a myosin heavy chain protein that is a molecular motor involved in muscle contraction. It is expressed in fast-twitch skeletal muscle fibers and localizes to the sarcomeric thick ...[+]

The myh3 gene encodes a myosin heavy chain protein that is a molecular motor involved in muscle contraction. It is expressed in fast-twitch skeletal muscle fibers and localizes to the sarcomeric thick filaments. Expression is observed in cranial muscles, including the depressor mandibulae and hypobranchial musculature, during tailbud and tadpole stages. [-]

             spondylocarpotarsal synostosis syndrome
             Freeman-Sheldon syndrome
             distal arthrogryposis type 2B1
             distal arthrogryposis type 2A
             contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A

          ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A
          CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A; CPSFS1A

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD