The gene myh7l encodes a myosin heavy chain protein, a molecular motor protein that binds actin and utilizes ATP hydrolysis to generate force for muscle contraction. In embryos, its mRNA is expressed s...[+]

The gene myh7l encodes a myosin heavy chain protein, a molecular motor protein that binds actin and utilizes ATP hydrolysis to generate force for muscle contraction. In embryos, its mRNA is expressed specifically within the developing somites and notochord during tailbud stages, indicating a role in early skeletal muscle formation and function. The protein localizes to the cytoplasm and is associated with thick filaments in muscle cells. [-]

             left ventricular noncompaction
             congenital myopathy 4A
             hypertrophic cardiomyopathy 1
             dilated cardiomyopathy 1S
             distal myopathy
             Ebstein anomaly
             distal myopathy 1
             autosomal recessive hyaline body myopathy
             autosomal dominant hyaline body myopathy

          CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1
          MYOPATHY, DISTAL, 1; MPD1
          CONGENITAL MYOPATHY 7A, MYOSIN STORAGE, AUTOSOMAL DOMINANT; CMYO7A
          MOVED TO 608358
          CARDIOMYOPATHY, DILATED, 1S; CMD1S
          CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; CMYO7B

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