full name
myosin heavy chain 3

synonyms
HEMHC, MYHC-EMB, MYHSE1, SMHCE, MYH3, ENSG00000109063

HGNC
HGNC:7573

Entrez Gene
Gene:4621

ENSEMBL
ENSG00000109063

location
chr: 17
start: 10531843
stop: 10560626
strand: -

OMIM
OMIM:160720: MYH3 (Autosomal dominant inheritance,Autosomal recessive inheritance)
OMIM:193700: Arthrogryposis, distal, type 2A (Freeman-Sheldon)
OMIM:618436: Arthrogryposis, distal, type 2B3 (Sheldon-Hall)
OMIM:178110: Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A
OMIM:618469: Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B

transcripts
NM_002470.3

pathways
Membrane Trafficking [NCBI:1269877] [REACTOME:R-HSA-199991] [PUBMED:11031247]
Muscle contraction [NCBI:1269868] [REACTOME:R-HSA-397014]
Striated Muscle Contraction [NCBI:1269869] [REACTOME:R-HSA-390522] [PUBMED:15173217] [PUBMED:13165697] [PUBMED:15173218] [PUBMED:13175187]
Tight junction [NCBI:83071] [KEGG:hsa04530] [PUBMED:25152334] [PUBMED:16650994] [PUBMED:22892070] [PUBMED:18946474] [PUBMED:12042308] [PUBMED:23885123] [PUBMED:16771626] [PUBMED:17182900] [PUBMED:21283798] [PUBMED:25757376] [PUBMED:22928510] [PUBMED:22169974] [PUBMED:25469537] [PUBMED:24651541] [PUBMED:15820555] [PUBMED:17525755] [PUBMED:27353478] [PUBMED:17950242] [PUBMED:18005931] [PUBMED:24548561] [PUBMED:21781017] [PUBMED:20094051] [PUBMED:20134025] [PUBMED:22896795] [PUBMED:18094055] [PUBMED:25483301]
Translocation of GLUT4 to the plasma membrane [NCBI:1269896] [REACTOME:R-HSA-1445148] [PUBMED:21306486] [PUBMED:19389739] [PUBMED:18570632] [PUBMED:21216617] [PUBMED:21405107] [PUBMED:20417083]
Vesicle-mediated transport [NCBI:1269876] [REACTOME:R-HSA-5653656]