NXT1

Chr 20

nuclear transport factor 2 like export factor 1

Also known as: MTR2, P15

NCBI Gene: 29107 ENSG00000132661 UniProt: Q9UKK6

The protein functions as a nuclear export factor that stimulates export of proteins containing nuclear export signals and facilitates export of various RNAs including U1 snRNA, tRNA, and mRNA through both CRM1-dependent and independent pathways. Mutations in NXT1 cause autosomal recessive intellectual disability with microcephaly and seizures, typically presenting in infancy or early childhood. The gene shows moderate constraint against loss-of-function variants, suggesting haploinsufficiency may be tolerated but complete loss of function is likely pathogenic.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is located in the nuclear envelope. It has protein similarity to nuclear transport factor 2. This protein functions as a nuclear export factor in both RAN (Ras-related nuclear protein)- and CRM1 (required for chromosome region maintenance)-dependent pathways. It is found to stimulate the export of U1 snRNA in RAN- and CRM1-dependent pathways and the export of tRNA and mRNA in a CRM1-independent pathway. The encoded protein heterodimerizes with Tap protein and may regulate the ability of Tap protein to mediate nuclear mRNA export. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]

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)

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P/LP submissions

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P/LP missense

0.89

LOEUF

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Mechanism

Some data sources returned errors (1)

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