Immunogen sequence: QNLQLPPEAR IEASLQHEIT RLTNENLDLM EQLEKQDKTV RKLKKQLKVF AKKIGELEVG QMENISPGQI IDEPIRPVNI PRKEKDFQGM LEYKKEDEQK LVKNLILELK PRGVAVNLIP G
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.
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Protein Aliases: Dilute myosin heavy chain, non-muscle; MYH12; MYO5; Myosin heavy chain 12; myosin V; myosin VA (heavy chain 12, myoxin); myosin, heavy polypeptide kinase; Myosin-12; myosin-Va; Myoxin; MYR12; Unconventional myosin-Va
Gene Aliases: GS1; MYH12; MYO5; MYO5A; MYR12
UniProt ID: (Human) Q9Y4I1
Entrez Gene ID: (Human) 4644