TM4SF19

Chr 3

transmembrane 4 L six family member 19

Also known as: OCTM4

NCBI Gene: 116211 ENSG00000145107 UniProt: Q96DZ7

The protein encoded by TM4SF19 is a four-transmembrane domain protein that negatively regulates vacuolar H+-ATPase activity by inhibiting V1-V0 complex assembly and is required for osteoclast multinucleation. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, typically presenting in early infancy with severe seizures and developmental delays. This gene is extremely intolerant to loss-of-function variation (pLI near 1.0), suggesting complete loss of protein function may be incompatible with normal development.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the four-transmembrane L6 superfamily. Members of this family function in various cellular processes including cell proliferation, motility, and adhesion via their interactions with integrins. In human brain tissue, this gene is expressed at high levels in the parietal lobe, occipital lobe, hippocampus, pons, white matter, corpus callosum, and cerebellum. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.54

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)