SLC35D4

Chr 18

solute carrier family 35 member D4

Also known as: C18orf45, TMEM241, hVVT

NCBI Gene: 85019 ENSG00000134490 UniProt: Q24JQ0

The protein functions as a Golgi-localized UDP-N-acetylglucosamine transporter that transports UDP-GlcNAc into the Golgi lumen and contributes to lysosomal targeting of NPC2 through the mannose-6-phosphate modification pathway. Mutations cause autosomal recessive developmental and epileptic encephalopathy with early infantile onset. The condition involves severe neurological impairment with seizures beginning in infancy.

ResearchSummary from RefSeq, UniProt

Enables UDP-N-acetylglucosamine transmembrane transporter activity. Involved in UDP-N-acetylglucosamine transmembrane transport. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (2)