STX18

Chr 4

syntaxin 18

Also known as: Ufe1

NCBI Gene: 53407 ENSG00000168818 UniProt: Q9P2W9

The STX18 protein is a syntaxin SNARE that mediates vesicular transport between the endoplasmic reticulum and Golgi complex and is important for organizing ER subdomains. Mutations cause autosomal recessive neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed myelination. The gene shows minimal constraint against loss-of-function variants, consistent with the recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the syntaxin family of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs) which is part of a membrane tethering complex that includes other SNAREs and several peripheral membrane proteins, and is involved in vesicular transport between the endoplasmic reticulum (ER) and the Golgi complex. The encoded protein is important for the organization of the smooth, rough, and exit site ER subdomains. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.96

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)