TVP23A

Chr 16

trans-golgi network vesicle protein 23 homolog A

Also known as: FAM18A, YDR084C

NCBI Gene: 780776 ENSG00000166676 UniProt: A6NH52

The protein is a Golgi apparatus membrane protein that facilitates intracellular vesicular transport, particularly in the delivery of secretory and membrane proteins to endosomes, lysosomes, and the plasma membrane. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, typically presenting in early infancy with seizures and severe developmental delays. The gene shows minimal constraint against loss-of-function variants, consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq

This gene encodes a membrane protein associated with the Golgi apparatus, which plays a crucial role in intracellular vesicular transport. The encoded protein is likely associated with the late (trans) Golgi compartments, which are involved in the delivery of secretory and membrane proteins to the endosome, lysosome or the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.29

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)