NETO1

Chr 18

neuropilin and tolloid like 1

Also known as: BCTL1, BTCL1

NCBI Gene: 81832 ENSG00000166342 UniProt: Q8TDF5

The protein functions as an accessory subunit of neuronal NMDA receptors, maintaining GRIN2A-containing NMDARs in the postsynaptic density and regulating synaptic plasticity critical for spatial learning and memory. Mutations cause autosomal recessive intellectual disability and epileptic encephalopathy with onset in infancy or early childhood. The gene is highly constrained against loss-of-function variants (LOEUF 0.496), indicating that complete loss of protein function is likely not tolerated.

ResearchSummary from RefSeq, UniProt

This gene encodes a transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. This protein is thought to play a critical role in spatial learning and memory by regulating the function of synaptic N-methyl-D-aspartic acid receptor complexes in the hippocampus. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2017]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.50

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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