MYO19

Chr 17

myosin XIX

Also known as: MYOHD1

NCBI Gene: 80179 ENSG00000278259 UniProt: Q96H55 OMIM: 617379

The protein is an actin-based motor that hydrolyzes ATP and localizes to the mitochondrial outer membrane, where it facilitates mitochondrial transport, positioning, and inheritance during cell division. Mutations cause autosomal recessive spastic paraplegia and early-onset developmental and epileptic encephalopathy, affecting the nervous system primarily. The gene shows very low constraint against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

Enables ATP hydrolysis activity and actin binding activity. Involved in regulation of cytokinesis and regulation of mitochondrial fission. Acts upstream of or within mitochondrion migration along actin filament. Located in cytosol and mitochondrial outer membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.18

LOEUF

Multiple*

Mechanism· predicted