TMEM144

Chr 4

transmembrane protein 144

Also known as: SLC35G7

NCBI Gene: 55314 ENSG00000164124 UniProt: Q7Z5S9

The TMEM144 protein is predicted to function as a carbohydrate transmembrane transporter, facilitating the transport of carbohydrates across cellular membranes. Mutations in TMEM144 cause autosomal recessive developmental and epileptic encephalopathy-106, typically presenting in infancy with seizures and developmental delays. This gene shows very low constraint against loss-of-function variants (pLI near zero), which is consistent with a recessive inheritance pattern where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq

Predicted to enable carbohydrate transmembrane transporter activity. Predicted to be involved in carbohydrate transmembrane transport. Predicted to be located in membrane. [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

1.35

LOEUF

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Mechanism

Some data sources returned errors (1)